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<meta name="keywords" content="C4551769, benign familial infantile convulsions syndrome, benign familial infantile convulsions syndrome 1, benign familial neonatal-infantile seizures 1, benign infantile familial convulsions, benign infantile familial convulsions 1, bfic1, bfis1, convulsions, benign familial infantile, 1, disease or syndrome, seizures, benign familial infantile, 1, 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="Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Infantile Seizures The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p. BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13. BFIS6 (see 610353) is caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1638448
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ConceptID=C4551769
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Benign familial neonatal-infantile seizures 1<span class="h1sub">(BFIS1; BFIC1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638448</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) Click for more information."><span class="highlight" style="background-color:">C4551769</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Benign familial infantile convulsions syndrome; Seizures, benign familial infantile, 1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0042499" target="_blank">MONDO:0042499</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601764" target="_blank">601764</a></td></tr>
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||
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<div class="portlet mgSection" id="ID_100">
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<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>
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||
<div class="portlet_content ln">Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Infantile Seizures The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p. BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13. BFIS6 (see 610353) is caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_115963"><div><strong>Generalized-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115963</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) Click for more information.">C0234533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115963">Feature record</a> | <a href="/medgen?term=%22Generalized-onset%20seizure%22%5BClinical%20Features%5D%20OR%20115963%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_543022"><div><strong>Focal impaired awareness seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543022</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) Click for more information.">C0270834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543022">Feature record</a> | <a href="/medgen?term=%22Focal%20impaired%20awareness%20seizure%22%5BClinical%20Features%5D%20OR%20543022%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</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) Click for more information.">C0751495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_164077"><div><strong>Bilateral tonic-clonic seizure with focal onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164077</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) Click for more information.">C0877017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164077">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%20with%20focal%20onset%22%5BClinical%20Features%5D%20OR%20164077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335892"><div><strong>Normal interictal EEG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335892</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) Click for more information.">C1843146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335892">Feature record</a> | <a href="/medgen?term=%22Normal%20interictal%20EEG%22%5BClinical%20Features%5D%20OR%20335892%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868343"><div><strong>Neurodevelopmental abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868343</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) Click for more information.">C4022737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868343">Feature record</a> | <a href="/medgen?term=%22Neurodevelopmental%20abnormality%22%5BClinical%20Features%5D%20OR%20868343%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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) Click for more information.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1189"><div><strong>Cyanosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1189</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) Click for more information.">C0010520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1189">Feature record</a> | <a href="/medgen?term=%22Cyanosis%22%5BClinical%20Features%5D%20OR%201189%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cyanosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_164077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure with focal onset</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_543022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal impaired awareness seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-onset seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized-onset seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Normal interictal EEG</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li></ul></li></ul></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/37596007">Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
|
||
Mulhern S,
|
||
Sheidley BR,
|
||
Boodhoo F,
|
||
Buts S,
|
||
Chandler NJ,
|
||
Cobb J,
|
||
Curtis M,
|
||
Higginbotham EJ,
|
||
Holland J,
|
||
Khan T,
|
||
Koh J,
|
||
Liang NSY,
|
||
McRae L,
|
||
Nesbitt SE,
|
||
Oby BT,
|
||
Paternoster B,
|
||
Patton A,
|
||
Rose G,
|
||
Scotchman E,
|
||
Valentine R,
|
||
Wiltrout KN;
|
||
Gene-STEPS Study Group;
|
||
IPCHiP Executive Committee,
|
||
Hayeems RZ,
|
||
Jain P,
|
||
Lunke S,
|
||
Marshall CR,
|
||
Rockowitz S,
|
||
Sebire NJ,
|
||
Stark Z,
|
||
White SM,
|
||
Chitty LS,
|
||
Cross JH,
|
||
Scheffer IE,
|
||
Chau V,
|
||
Costain G,
|
||
Poduri A,
|
||
Howell KB,
|
||
McTague A</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Sep;22(9):812-825.
|
||
doi: 10.1016/S1474-4422(23)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37596007" target="_blank">37596007</a><a href="/pmc/articles/PMC11860300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23360469">Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zara F,
|
||
Specchio N,
|
||
Striano P,
|
||
Robbiano A,
|
||
Gennaro E,
|
||
Paravidino R,
|
||
Vanni N,
|
||
Beccaria F,
|
||
Capovilla G,
|
||
Bianchi A,
|
||
Caffi L,
|
||
Cardilli V,
|
||
Darra F,
|
||
Bernardina BD,
|
||
Fusco L,
|
||
Gaggero R,
|
||
Giordano L,
|
||
Guerrini R,
|
||
Incorpora G,
|
||
Mastrangelo M,
|
||
Spaccini L,
|
||
Laverda AM,
|
||
Vecchi M,
|
||
Vanadia F,
|
||
Veggiotti P,
|
||
Viri M,
|
||
Occhi G,
|
||
Budetta M,
|
||
Taglialatela M,
|
||
Coviello DA,
|
||
Vigevano F,
|
||
Minetti C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2013 Mar;54(3):425-36.
|
||
Epub 2013 Jan 29
|
||
doi: 10.1111/epi.12089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23360469" target="_blank">23360469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22424739">Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallant NM,
|
||
Leydiker K,
|
||
Tang H,
|
||
Feuchtbaum L,
|
||
Lorey F,
|
||
Puckett R,
|
||
Deignan JL,
|
||
Neidich J,
|
||
Dorrani N,
|
||
Chang E,
|
||
Barshop BA,
|
||
Cederbaum SD,
|
||
Abdenur JE,
|
||
Wang RY</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 May;106(1):55-61.
|
||
Epub 2012 Feb 9
|
||
doi: 10.1016/j.ymgme.2012.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22424739" target="_blank">22424739</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(benign%20familial%20neonatal-infantile%20seizures%201)%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 (5)</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/37596007">Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
|
||
Mulhern S,
|
||
Sheidley BR,
|
||
Boodhoo F,
|
||
Buts S,
|
||
Chandler NJ,
|
||
Cobb J,
|
||
Curtis M,
|
||
Higginbotham EJ,
|
||
Holland J,
|
||
Khan T,
|
||
Koh J,
|
||
Liang NSY,
|
||
McRae L,
|
||
Nesbitt SE,
|
||
Oby BT,
|
||
Paternoster B,
|
||
Patton A,
|
||
Rose G,
|
||
Scotchman E,
|
||
Valentine R,
|
||
Wiltrout KN;
|
||
Gene-STEPS Study Group;
|
||
IPCHiP Executive Committee,
|
||
Hayeems RZ,
|
||
Jain P,
|
||
Lunke S,
|
||
Marshall CR,
|
||
Rockowitz S,
|
||
Sebire NJ,
|
||
Stark Z,
|
||
White SM,
|
||
Chitty LS,
|
||
Cross JH,
|
||
Scheffer IE,
|
||
Chau V,
|
||
Costain G,
|
||
Poduri A,
|
||
Howell KB,
|
||
McTague A</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Sep;22(9):812-825.
|
||
doi: 10.1016/S1474-4422(23)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37596007" target="_blank">37596007</a><a href="/pmc/articles/PMC11860300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33048248">Neurocutaneous melanocytosis (melanosis).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruggieri M,
|
||
Polizzi A,
|
||
Catanzaro S,
|
||
Bianco ML,
|
||
Praticò AD,
|
||
Di Rocco C</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2020 Oct;36(10):2571-2596.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1007/s00381-020-04770-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33048248" target="_blank">33048248</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31924505">The phenotypic spectrum of SCN2A-related epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reynolds C,
|
||
King MD,
|
||
Gorman KM</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2020 Jan;24:117-122.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1016/j.ejpn.2019.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31924505" target="_blank">31924505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29764460">Benign and severe early-life seizures: a round in the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavone P,
|
||
Corsello G,
|
||
Ruggieri M,
|
||
Marino S,
|
||
Marino S,
|
||
Falsaperla R</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2018 May 15;44(1):54.
|
||
doi: 10.1186/s13052-018-0491-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29764460" target="_blank">29764460</a><a href="/pmc/articles/PMC5952424" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12060001">Neonatal seizures and syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tharp BR</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2002;43 Suppl 3:2-10.
|
||
doi: 10.1046/j.1528-1157.43.s.3.11.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12060001" target="_blank">12060001</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20neonatal-infantile%20seizures%201%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 (59)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37596007">Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
|
||
Mulhern S,
|
||
Sheidley BR,
|
||
Boodhoo F,
|
||
Buts S,
|
||
Chandler NJ,
|
||
Cobb J,
|
||
Curtis M,
|
||
Higginbotham EJ,
|
||
Holland J,
|
||
Khan T,
|
||
Koh J,
|
||
Liang NSY,
|
||
McRae L,
|
||
Nesbitt SE,
|
||
Oby BT,
|
||
Paternoster B,
|
||
Patton A,
|
||
Rose G,
|
||
Scotchman E,
|
||
Valentine R,
|
||
Wiltrout KN;
|
||
Gene-STEPS Study Group;
|
||
IPCHiP Executive Committee,
|
||
Hayeems RZ,
|
||
Jain P,
|
||
Lunke S,
|
||
Marshall CR,
|
||
Rockowitz S,
|
||
Sebire NJ,
|
||
Stark Z,
|
||
White SM,
|
||
Chitty LS,
|
||
Cross JH,
|
||
Scheffer IE,
|
||
Chau V,
|
||
Costain G,
|
||
Poduri A,
|
||
Howell KB,
|
||
McTague A</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Sep;22(9):812-825.
|
||
doi: 10.1016/S1474-4422(23)00246-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37596007" target="_blank">37596007</a><a href="/pmc/articles/PMC11860300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34490964">Psychogenic seizures in a child with infantile convulsions and choreoathetosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimomura R,
|
||
Ito S,
|
||
Kurotaki N,
|
||
Saito K,
|
||
Nagata S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2022 Jan;64(1):e14681.
|
||
Epub 2021 Sep 7
|
||
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<div class="nl"><a target="_blank" href="/pubmed/23622196">Neonatal seizures.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Plouin P,
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Kaminska A</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20neonatal-infantile%20seizures%201%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 (63)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38160512">Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31924505">The phenotypic spectrum of SCN2A-related epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reynolds C,
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King MD,
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Ishii A,
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Ohmori I,
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Awaya T,
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Kubota T,
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Sakakibara T,
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Ishihara N,
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Hattori A,
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Torisu H,
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Tohyama J,
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Inoue T,
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Yuhara Y,
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Miya K,
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Tanaka R,
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2019 Oct;71:1-5.
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Epub 2019 May 20
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<span class="bold">PMID: </span><a href="/pubmed/31154286" target="_blank">31154286</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22116015">Benign convulsions in newborns and infants: occurrence, clinical course and prognosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hrastovec A,
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<span class="bold">PMID: </span><a href="/pubmed/22116015" target="_blank">22116015</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20neonatal-infantile%20seizures%201%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 (55)</a></div></div>
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</div>
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|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/28421657">Core outcome sets in women's and newborn health: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Duffy J,
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Rolph R,
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Gale C,
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Hirsch M,
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Khan KS,
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Ziebland S,
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McManus RJ;
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International Collaboration to Harmonise Outcomes in Pre-eclampsia (iHOPE)</span><br />
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<span class="medgenPMjournal">BJOG</span>
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2017 Sep;124(10):1481-1489.
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doi: 10.1111/1471-0528.14694.
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<span class="bold">PMID: </span><a href="/pubmed/28421657" target="_blank">28421657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15495087">Anticonvulsants for neonates with seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booth D,
|
||
Evans DJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2004 Oct 18;(4):CD004218.
|
||
doi: 10.1002/14651858.CD004218.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15495087" target="_blank">15495087</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20neonatal-infantile%20seizures%201%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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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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