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<meta name="keywords" content="C4023491, epileptiform eeg discharges, finding, interictal epileptiform activity, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Interictal epileptiform activity (Concept Id: C4023491)
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<!--
UID=869073
ConceptID=C4023491
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Interictal epileptiform activity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869073</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4023491</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Epileptiform EEG discharges</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011182">HP:0011182</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Interictal epileptiform activity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/867410" ref="tree=MeSH" title="MedGen record for Abnormal nervous system electrophysiology">Abnormal nervous system electrophysiology</a></span><ul><li><span class="TLline"><a href="/medgen/868205" ref="tree=MeSH" title="MedGen record for Abnormality of central nervous system electrophysiology">Abnormality of central nervous system electrophysiology</a></span><ul><li><span class="TLline"><a href="/medgen/56235" ref="tree=MeSH" title="MedGen record for EEG abnormality">EEG abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1377364" ref="tree=MeSH" title="MedGen record for Interictal EEG abnormality">Interictal EEG abnormality</a></span><ul><li><span class="matched_ds">Interictal epileptiform activity</span><ul><li><span class="TLline"><a href="/medgen/866845" ref="tree=MeSH" title="MedGen record for EEG with focal epileptiform discharges">EEG with focal epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/1781579" ref="tree=MeSH" title="MedGen record for EEG with central epileptiform discharges">EEG with central epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/868679" ref="tree=MeSH" title="MedGen record for EEG with central focal spike waves">EEG with central focal spike waves</a></span></li><li><span class="TLline"><a href="/medgen/868674" ref="tree=MeSH" title="MedGen record for EEG with central focal spikes">EEG with central focal spikes</a></span></li><li><span class="TLline"><a href="/medgen/869008" ref="tree=MeSH" title="MedGen record for EEG with central sharp slow waves">EEG with central sharp slow waves</a></span></li><li><span class="TLline"><a href="/medgen/777019" ref="tree=MeSH" title="MedGen record for EEG with central sharp waves">EEG with central sharp waves</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1782134" ref="tree=MeSH" title="MedGen record for EEG with centrotemporal epileptiform discharges">EEG with centrotemporal epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/868454" ref="tree=MeSH" title="MedGen record for EEG with centrotemporal focal spike waves">EEG with centrotemporal focal spike waves</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869061" ref="tree=MeSH" title="MedGen record for EEG with focal sharp slow waves">EEG with focal sharp slow waves</a></span></li><li><span class="TLline"><a href="/medgen/869060" ref="tree=MeSH" title="MedGen record for EEG with focal sharp waves">EEG with focal sharp waves</a></span></li><li><span class="TLline"><a href="/medgen/869059" ref="tree=MeSH" title="MedGen record for EEG with focal spike waves">EEG with focal spike waves</a></span></li><li><span class="TLline"><a href="/medgen/869063" ref="tree=MeSH" title="MedGen record for EEG with focal spikes">EEG with focal spikes</a></span><ul><li><span class="TLline"><a href="/medgen/869062" ref="tree=MeSH" title="MedGen record for EEG with series of focal spikes">EEG with series of focal spikes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1782918" ref="tree=MeSH" title="MedGen record for EEG with frontal epileptiform discharges">EEG with frontal epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/868678" ref="tree=MeSH" title="MedGen record for EEG with frontal focal spike waves">EEG with frontal focal spike waves</a></span></li><li><span class="TLline"><a href="/medgen/868673" ref="tree=MeSH" title="MedGen record for EEG with frontal focal spikes">EEG with frontal focal spikes</a></span></li><li><span class="TLline"><a href="/medgen/869009" ref="tree=MeSH" title="MedGen record for EEG with frontal sharp slow waves">EEG with frontal sharp slow waves</a></span></li><li><span class="TLline"><a href="/medgen/777014" ref="tree=MeSH" title="MedGen record for EEG with frontal sharp waves">EEG with frontal sharp waves</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1780269" ref="tree=MeSH" title="MedGen record for EEG with occipital epileptiform discharges">EEG with occipital epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/868677" ref="tree=MeSH" title="MedGen record for EEG with occipital focal spike waves">EEG with occipital focal spike waves</a></span></li><li><span class="TLline"><a href="/medgen/868672" ref="tree=MeSH" title="MedGen record for EEG with occipital focal spikes">EEG with occipital focal spikes</a></span></li><li><span class="TLline"><a href="/medgen/869012" ref="tree=MeSH" title="MedGen record for EEG with occipital sharp slow waves">EEG with occipital sharp slow waves</a></span></li><li><span class="TLline"><a href="/medgen/777017" ref="tree=MeSH" title="MedGen record for EEG with occipital sharp waves">EEG with occipital sharp waves</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1780876" ref="tree=MeSH" title="MedGen record for EEG with parietal epileptiform discharges">EEG with parietal epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/868676" ref="tree=MeSH" title="MedGen record for EEG with parietal focal spike waves">EEG with parietal focal spike waves</a></span></li><li><span class="TLline"><a href="/medgen/868671" ref="tree=MeSH" title="MedGen record for EEG with parietal focal spikes">EEG with parietal focal spikes</a></span></li><li><span class="TLline"><a href="/medgen/869011" ref="tree=MeSH" title="MedGen record for EEG with parietal sharp slow waves">EEG with parietal sharp slow waves</a></span></li><li><span class="TLline"><a href="/medgen/777016" ref="tree=MeSH" title="MedGen record for EEG with parietal sharp waves">EEG with parietal sharp waves</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1785327" ref="tree=MeSH" title="MedGen record for EEG with temporal epileptiform discharges">EEG with temporal epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/868675" ref="tree=MeSH" title="MedGen record for EEG with temporal focal spike waves">EEG with temporal focal spike waves</a></span></li><li><span class="TLline"><a href="/medgen/868670" ref="tree=MeSH" title="MedGen record for EEG with temporal focal spikes">EEG with temporal focal spikes</a></span></li><li><span class="TLline"><a href="/medgen/869010" ref="tree=MeSH" title="MedGen record for EEG with temporal sharp slow waves">EEG with temporal sharp slow waves</a></span></li><li><span class="TLline"><a href="/medgen/777015" ref="tree=MeSH" title="MedGen record for EEG with temporal sharp waves">EEG with temporal sharp waves</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869069" ref="tree=MeSH" title="MedGen record for Focal EEG discharges with propagation to ipsilateral hemisphere">Focal EEG discharges with propagation to ipsilateral hemisphere</a></span></li><li><span class="TLline"><a href="/medgen/869068" ref="tree=MeSH" title="MedGen record for Focal EEG discharges with secondary generalization">Focal EEG discharges with secondary generalization</a></span></li><li><span class="TLline"><a href="/medgen/869070" ref="tree=MeSH" title="MedGen record for Focal epileptiform discharges with limited propagation to contralateral hemisphere">Focal epileptiform discharges with limited propagation to contralateral hemisphere</a></span><ul><li><span class="TLline"><a href="/medgen/866860" ref="tree=MeSH" title="MedGen record for EEG with periodic lateralized epileptiform discharges">EEG with periodic lateralized epileptiform discharges</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869042" ref="tree=MeSH" title="MedGen record for Hemihypsarrhythmia">Hemihypsarrhythmia</a></span></li><li><span class="TLline"><a href="/medgen/866864" ref="tree=MeSH" title="MedGen record for Multifocal epileptiform discharges">Multifocal epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/869067" ref="tree=MeSH" title="MedGen record for Bilateral multifocal epileptiform discharges">Bilateral multifocal epileptiform discharges</a></span></li><li><span class="TLline"><a href="/medgen/869066" ref="tree=MeSH" title="MedGen record for Uni- and bilateral multifocal epileptiform discharges">Uni- and bilateral multifocal epileptiform discharges</a></span></li><li><span class="TLline"><a href="/medgen/869065" ref="tree=MeSH" title="MedGen record for Unilateral multifocal epileptiform discharges">Unilateral multifocal epileptiform discharges</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869064" ref="tree=MeSH" title="MedGen record for Polymorphic focal epileptiform discharges">Polymorphic focal epileptiform discharges</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869058" ref="tree=MeSH" title="MedGen record for EEG with generalized epileptiform discharges">EEG with generalized epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/369943" ref="tree=MeSH" title="MedGen record for EEG with burst suppression">EEG with burst suppression</a></span></li><li><span class="TLline"><a href="/medgen/869056" ref="tree=MeSH" title="MedGen record for EEG with generalized polymorphic epileptiform discharges">EEG with generalized polymorphic epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/866856" ref="tree=MeSH" title="MedGen record for EEG with periodic abnormalities">EEG with periodic abnormalities</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868685" ref="tree=MeSH" title="MedGen record for EEG with generalized polyspikes">EEG with generalized polyspikes</a></span></li><li><span class="TLline"><a href="/medgen/869057" ref="tree=MeSH" title="MedGen record for EEG with generalized sharp slow waves">EEG with generalized sharp slow waves</a></span></li><li><span class="TLline"><a href="/medgen/777018" ref="tree=MeSH" title="MedGen record for EEG with generalized spikes">EEG with generalized spikes</a></span></li><li><span class="TLline"><a href="/medgen/869259" ref="tree=MeSH" title="MedGen record for EEG with spike-wave complexes">EEG with spike-wave complexes</a></span><ul><li><span class="TLline"><a href="/medgen/871304" ref="tree=MeSH" title="MedGen record for EEG with irregular generalized spike and wave complexes">EEG with irregular generalized spike and wave complexes</a></span></li><li><span class="TLline"><a href="/medgen/867392" ref="tree=MeSH" title="MedGen record for EEG with polyspike wave complexes">EEG with polyspike wave complexes</a></span></li><li><span class="TLline"><a href="/medgen/869260" ref="tree=MeSH" title="MedGen record for EEG with spike-wave complexes (2.5-3.5 Hz)">EEG with spike-wave complexes (2.5-3.5 Hz)</a></span></li><li><span class="TLline"><a href="/medgen/869261" ref="tree=MeSH" title="MedGen record for EEG with spike-wave complexes (&lt;2.5 Hz)">EEG with spike-wave complexes (&lt;2.5 Hz)</a></span></li><li><span class="TLline"><a href="/medgen/892339" ref="tree=MeSH" title="MedGen record for EEG with spike-wave complexes (&gt;3.5 Hz)">EEG with spike-wave complexes (&gt;3.5 Hz)</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/195766" ref="tree=MeSH" title="MedGen record for Hypsarrhythmia">Hypsarrhythmia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869258" ref="tree=MeSH" title="MedGen record for EEG with hyperventilation-induced epileptiform discharges">EEG with hyperventilation-induced epileptiform discharges</a></span><ul><li><span class="TLline"><a href="/medgen/869072" ref="tree=MeSH" title="MedGen record for EEG with hyperventilation-induced focal epileptiform discharges">EEG with hyperventilation-induced focal epileptiform discharges</a></span></li><li><span class="TLline"><a href="/medgen/869071" ref="tree=MeSH" title="MedGen record for EEG with hyperventilation-induced generalized epileptiform discharges">EEG with hyperventilation-induced generalized epileptiform discharges</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1783984" ref="tree=MeSH" title="MedGen record for Fixation-off epileptiform discharges">Fixation-off epileptiform discharges</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_155923"><div><strong>Unverricht-Lundborg syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155923</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0751785</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by anti-seizure medication, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155923">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162893"><div><strong>Agenesis of the corpus callosum with peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162893</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0795950</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162893">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_437111"><div><strong>Syndromic X-linked intellectual disability 94</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>437111</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2678051</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/437111">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394455"><div><strong>Christianson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394455</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2678194</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394455">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766992"><div><strong>Branched-chain keto acid dehydrogenase kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766992</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554078</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766992">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767109"><div><strong>Developmental and epileptic encephalopathy, 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767109</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554195</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). EIMFS is characterized by seizures, typically focal and asynchronous, beginning in the first six months of life with associated developmental plateau or regression. Autonomic manifestations (e.g., perioral cyanosis, flushing, apnea) are common. Seizures are intractable to multiple anticonvulsants and progress to become nearly continuous by age six to nine months. ADNFLE is characterized by clusters of nocturnal motor seizures that vary from simple arousals to hyperkinetic events with tonic or dystonic features. Individuals with KCNT1-related ADNFLE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems than individuals with ADNFLE resulting from other causes. Less common seizure phenotypes in individuals with KCNT1-related epilepsy include West syndrome, Ohtahara syndrome, early myoclonic encephalopathy, leukodystrophy and/or leukoencephalopathy, focal epilepsy, and multifocal epilepsy. Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound developmental delay, and additional movement disorders. Other systemic manifestations including pulmonary hemorrhage caused by prominent systemic-to-pulmonary collateral arteries or cardiac arrhythmia have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767109">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815704"><div><strong>Epilepsy, familial adult myoclonic, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815704</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3809374</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Early-onset epilepsy-5 with or without developmental delay (EPEO5) is an autosomal recessive neurologic disorder characterized by the onset of various types of seizures late in the first decade or during adolescence. Focal seizures are common. Most affected individuals have developmental delay, variable impaired intellectual development, and/or behavioral and neuropsychiatric abnormalities (Stogmann et al., 2013; Abdulkareem et al., 2023).&#13; For a discussion of genetic heterogeneity of EPEO, see 617290.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815704">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_862867"><div><strong>Developmental and epileptic encephalopathy, 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862867</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4014430</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by Alazami et al., 2014 and Alsahli et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/862867">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1615361"><div><strong>Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615361</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4540493</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) is an autosomal recessive disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth, as well as postnatal progressive microcephaly. Most patients develop early-onset, frequent, and often intractable seizures, compatible with an epileptic encephalopathy. Other features include poor feeding, poor overall growth, absent speech, poor or absent eye contact, inability to achieve walking, hypotonia, and peripheral spasticity. Brain imaging usually shows progressive cerebral atrophy, thin corpus callosum, and abnormalities in myelination. Death in childhood may occur (summary by Siekierska et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1615361">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648348"><div><strong>Intellectual disability, autosomal recessive 63</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648348</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4748167</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648348">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684879"><div><strong>Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684879</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231486</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019).&#13; For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684879">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1717271"><div><strong>Diabetes mellitus, permanent neonatal 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717271</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5394303</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to age 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and history of intrauterine growth deficiency. Therapy with insulin and/or oral hypoglycemic medications (in some molecular causes of PNDM) can correct the hyperglycemia and result in dramatic catch-up growth. The course of PNDM varies by genotype.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1717271">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1710110"><div><strong>Neurodevelopmental disorder with hypotonia, microcephaly, and seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710110</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5394312</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1710110">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1718470"><div><strong>Periventricular nodular heterotopia 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718470</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5394503</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by Heinzen et al., 2018, Walters et al., 2018).&#13; For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see 300049.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1718470">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1708579"><div><strong>Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708579</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5394517</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1708579">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1737097"><div><strong>Neurodevelopmental disorder with or without early-onset generalized epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1737097</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436914</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by Mulhern et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1737097">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1808571"><div><strong>Intellectual developmental disorder, autosomal recessive 76</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808571</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5677007</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive intellectual developmental disorder-76 (MRT76) is characterized by impaired intellectual development, absent speech, poor sleep, abnormal EEG with seizures, normal brain imaging, and precocious puberty (Ismail et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1808571">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823970"><div><strong>Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823970</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774197</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech. Brain imaging may show developmental defects of the operculum, cerebellum, and corpus callosum. Death in early childhood may occur (Calame et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823970">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824047"><div><strong>Muscular dystrophy, congenital, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824047</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774274</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital muscular dystrophy with or without seizures (MYOS) is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy on MRI (summary by Larson et al., 2018 and Henige et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824047">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of the corpus callosum with peripheral neuropathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branched-chain keto acid dehydrogenase kinase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Christianson syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 63</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1710110" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, microcephaly, and seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1737097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without early-onset generalized epilepsy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1708579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular nodular heterotopia 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_437111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability 94</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155923" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unverricht-Lundborg syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/28416780">New onset epilepsy in the elderly: clinical, radiological and electroencephalographic features and treatment responses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shariff EM,
AlKhamis FA</span><br />
<span class="medgenPMjournal">Neurosciences (Riyadh)</span>
2017 Apr;22(2):102-106.
doi: 10.17712/nsj.2017.2.20160527.
<span class="bold">PMID: </span><a href="/pubmed/28416780" target="_blank">28416780</a><a href="/pmc/articles/PMC5726814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22380853">Vagal nerve stimulation for the treatment of medically refractory epilepsy: a review of the current literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Connor DE Jr,
Nixon M,
Nanda A,
Guthikonda B</span><br />
<span class="medgenPMjournal">Neurosurg Focus</span>
2012 Mar;32(3):E12.
doi: 10.3171/2011.12.FOCUS11328.
<span class="bold">PMID: </span><a href="/pubmed/22380853" target="_blank">22380853</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22interictal%20epileptiform%20activity%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/33555292">Seizure Cycles in Focal Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leguia MG,
Andrzejak RG,
Rummel C,
Fan JM,
Mirro EA,
Tcheng TK,
Rao VR,
Baud MO</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2021 Apr 1;78(4):454-463.
doi: 10.1001/jamaneurol.2020.5370.
<span class="bold">PMID: </span><a href="/pubmed/33555292" target="_blank">33555292</a><a href="/pmc/articles/PMC7871210" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28054328">Magnetoencephalography and New Imaging Modalities in Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Falco-Walter J,
Owen C,
Sharma M,
Reggi C,
Yu M,
Stoub TR,
Stein MA</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2017 Jan;14(1):4-10.
doi: 10.1007/s13311-016-0506-7.
<span class="bold">PMID: </span><a href="/pubmed/28054328" target="_blank">28054328</a><a href="/pmc/articles/PMC5233639" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25847431">Interictal epileptiform activity and autism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghacibeh GA,
Fields C</span><br />
<span class="medgenPMjournal">Epilepsy Behav</span>
2015 Jun;47:158-62.
Epub 2015 Apr 3
doi: 10.1016/j.yebeh.2015.02.025.
<span class="bold">PMID: </span><a href="/pubmed/25847431" target="_blank">25847431</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23027100">Pediatric focal epilepsy syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez Fernández I,
Loddenkemper T</span><br />
<span class="medgenPMjournal">J Clin Neurophysiol</span>
2012 Oct;29(5):425-40.
doi: 10.1097/WNP.0b013e31826bd943.
<span class="bold">PMID: </span><a href="/pubmed/23027100" target="_blank">23027100</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9741765">Interictal epileptiform activity in elderly patients with epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Drury I,
Beydoun A</span><br />
<span class="medgenPMjournal">Electroencephalogr Clin Neurophysiol</span>
1998 Apr;106(4):369-73.
doi: 10.1016/s0013-4694(97)00158-2.
<span class="bold">PMID: </span><a href="/pubmed/9741765" target="_blank">9741765</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Interictal%20epileptiform%20activity%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (88)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33632673">Developmental and epileptic encephalopathies: recognition and approaches to care.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raga S,
Specchio N,
Rheims S,
Wilmshurst JM</span><br />
<span class="medgenPMjournal">Epileptic Disord</span>
2021 Feb 1;23(1):40-52.
doi: 10.1684/epd.2021.1244.
<span class="bold">PMID: </span><a href="/pubmed/33632673" target="_blank">33632673</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33555292">Seizure Cycles in Focal Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leguia MG,
Andrzejak RG,
Rummel C,
Fan JM,
Mirro EA,
Tcheng TK,
Rao VR,
Baud MO</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2021 Apr 1;78(4):454-463.
doi: 10.1001/jamaneurol.2020.5370.
<span class="bold">PMID: </span><a href="/pubmed/33555292" target="_blank">33555292</a><a href="/pmc/articles/PMC7871210" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23027100">Pediatric focal epilepsy syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez Fernández I,
Loddenkemper T</span><br />
<span class="medgenPMjournal">J Clin Neurophysiol</span>
2012 Oct;29(5):425-40.
doi: 10.1097/WNP.0b013e31826bd943.
<span class="bold">PMID: </span><a href="/pubmed/23027100" target="_blank">23027100</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16678492">Cryptogenic localization-related epilepsy with childhood onset: The problem of definition and prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reijs RP,
van Mil SG,
van Hall MH,
Arends JB,
Weber JW,
Renier WO,
Aldenkamp AP</span><br />
<span class="medgenPMjournal">Epilepsy Behav</span>
2006 Jun;8(4):693-702.
Epub 2006 May 5
doi: 10.1016/j.yebeh.2006.03.004.
<span class="bold">PMID: </span><a href="/pubmed/16678492" target="_blank">16678492</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12881662">Interictal epileptiform activity: diagnostic and behavioral implications: 2002 ACNS presidential address.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fisch BJ;
ACNS</span><br />
<span class="medgenPMjournal">J Clin Neurophysiol</span>
2003 May-Jun;20(3):155-62.
doi: 10.1097/00004691-200305000-00001.
<span class="bold">PMID: </span><a href="/pubmed/12881662" target="_blank">12881662</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Interictal%20epileptiform%20activity%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (114)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38379195">Seizure Cycles under Pharmacotherapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrichs-Maeder C,
Proix T,
Tcheng TK,
Skarpaas T,
Rao VR,
Baud MO</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2024 Apr;95(4):743-753.
Epub 2024 Feb 20
doi: 10.1002/ana.26878.
<span class="bold">PMID: </span><a href="/pubmed/38379195" target="_blank">38379195</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33555292">Seizure Cycles in Focal Epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leguia MG,
Andrzejak RG,
Rummel C,
Fan JM,
Mirro EA,
Tcheng TK,
Rao VR,
Baud MO</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2021 Apr 1;78(4):454-463.
doi: 10.1001/jamaneurol.2020.5370.
<span class="bold">PMID: </span><a href="/pubmed/33555292" target="_blank">33555292</a><a href="/pmc/articles/PMC7871210" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23027100">Pediatric focal epilepsy syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez Fernández I,
Loddenkemper T</span><br />
<span class="medgenPMjournal">J Clin Neurophysiol</span>
2012 Oct;29(5):425-40.
doi: 10.1097/WNP.0b013e31826bd943.
<span class="bold">PMID: </span><a href="/pubmed/23027100" target="_blank">23027100</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10987575">Sleep and epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bazil CW</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2000 Apr;13(2):171-5.
doi: 10.1097/00019052-200004000-00010.
<span class="bold">PMID: </span><a href="/pubmed/10987575" target="_blank">10987575</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9741765">Interictal epileptiform activity in elderly patients with epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Drury I,
Beydoun A</span><br />
<span class="medgenPMjournal">Electroencephalogr Clin Neurophysiol</span>
1998 Apr;106(4):369-73.
doi: 10.1016/s0013-4694(97)00158-2.
<span class="bold">PMID: </span><a href="/pubmed/9741765" target="_blank">9741765</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Interictal%20epileptiform%20activity%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (47)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38379195">Seizure Cycles under Pharmacotherapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrichs-Maeder C,
Proix T,
Tcheng TK,
Skarpaas T,
Rao VR,
Baud MO</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2024 Apr;95(4):743-753.
Epub 2024 Feb 20
doi: 10.1002/ana.26878.
<span class="bold">PMID: </span><a href="/pubmed/38379195" target="_blank">38379195</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36780237">Seizure forecasting: Where do we stand?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Andrzejak RG,
Zaveri HP,
Schulze-Bonhage A,
Leguia MG,
Stacey WC,
Richardson MP,
Kuhlmann L,
Lehnertz K</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2023 Dec;64 Suppl 3(Suppl 3):S62-S71.
Epub 2023 Mar 8
doi: 10.1111/epi.17546.
<span class="bold">PMID: </span><a href="/pubmed/36780237" target="_blank">36780237</a><a href="/pmc/articles/PMC10423299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23027100">Pediatric focal epilepsy syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez Fernández I,
Loddenkemper T</span><br />
<span class="medgenPMjournal">J Clin Neurophysiol</span>
2012 Oct;29(5):425-40.
doi: 10.1097/WNP.0b013e31826bd943.
<span class="bold">PMID: </span><a href="/pubmed/23027100" target="_blank">23027100</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23027092">Neocortical temporal lobe epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy JD,
Schuele SU</span><br />
<span class="medgenPMjournal">J Clin Neurophysiol</span>
2012 Oct;29(5):366-70.
doi: 10.1097/WNP.0b013e31826bd78b.
<span class="bold">PMID: </span><a href="/pubmed/23027092" target="_blank">23027092</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21842185">Language organization and reorganization in epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamberger MJ,
Cole J</span><br />
<span class="medgenPMjournal">Neuropsychol Rev</span>
2011 Sep;21(3):240-51.
Epub 2011 Aug 13
doi: 10.1007/s11065-011-9180-z.
<span class="bold">PMID: </span><a href="/pubmed/21842185" target="_blank">21842185</a><a href="/pmc/articles/PMC3193181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Interictal%20epileptiform%20activity%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (58)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38379195">Seizure Cycles under Pharmacotherapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrichs-Maeder C,
Proix T,
Tcheng TK,
Skarpaas T,
Rao VR,
Baud MO</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2024 Apr;95(4):743-753.
Epub 2024 Feb 20
doi: 10.1002/ana.26878.
<span class="bold">PMID: </span><a href="/pubmed/38379195" target="_blank">38379195</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36944674">Non-invasive measurements of ictal and interictal epileptiform activity using optically pumped magnetometers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hillebrand A,
Holmes N,
Sijsma N,
O'Neill GC,
Tierney TM,
Liberton N,
Stam AH,
van Klink N,
Stam CJ,
Bowtell R,
Brookes MJ,
Barnes GR</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2023 Mar 21;13(1):4623.
doi: 10.1038/s41598-023-31111-y.
<span class="bold">PMID: </span><a href="/pubmed/36944674" target="_blank">36944674</a><a href="/pmc/articles/PMC10030968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36170698">Possible Clinical and Pharmacogenetic Predictors of the Efficacy and Safety of Carbamazepine in Post-COVID-19 Depression.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vaiman E,
Gayduk A,
Strelnik A,
Smirnova D,
Davydkin I,
Fedyashov I,
Cumming P,
Shnayder N,
Nasyrova R</span><br />
<span class="medgenPMjournal">Psychiatr Danub</span>
2022 Sep;34(Suppl 8):31-37.
<span class="bold">PMID: </span><a href="/pubmed/36170698" target="_blank">36170698</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30611007">Epilepsy and interictal epileptiform activity in patients with autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Milovanovic M,
Radivojevic V,
Radosavljev-Kircanski J,
Grujicic R,
Toskovic O,
Aleksić-Hil O,
Pejovic-Milovancevic M</span><br />
<span class="medgenPMjournal">Epilepsy Behav</span>
2019 Mar;92:45-52.
Epub 2019 Jan 3
doi: 10.1016/j.yebeh.2018.12.011.
<span class="bold">PMID: </span><a href="/pubmed/30611007" target="_blank">30611007</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23027100">Pediatric focal epilepsy syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez Fernández I,
Loddenkemper T</span><br />
<span class="medgenPMjournal">J Clin Neurophysiol</span>
2012 Oct;29(5):425-40.
doi: 10.1097/WNP.0b013e31826bd943.
<span class="bold">PMID: </span><a href="/pubmed/23027100" target="_blank">23027100</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Interictal%20epileptiform%20activity%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (62)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34704941">Seizures in autoimmune encephalitis: specific features based on a systematic comparative study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cousyn L,
Lambrecq V,
Houot M,
Shor N,
Nguyen-Michel VH,
Frazzini V,
Dupont S,
Demeret S,
Navarro V</span><br />
<span class="medgenPMjournal">Epileptic Disord</span>
2021 Dec 1;23(6):879-892.
doi: 10.1684/epd.2021.1355.
<span class="bold">PMID: </span><a href="/pubmed/34704941" target="_blank">34704941</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11737164">Seizure outcome after temporal lobectomy: current research practice and findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McIntosh AM,
Wilson SJ,
Berkovic SF</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2001 Oct;42(10):1288-307.
doi: 10.1046/j.1528-1157.2001.02001.x.
<span class="bold">PMID: </span><a href="/pubmed/11737164" target="_blank">11737164</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Interictal%20epileptiform%20activity%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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