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<span>Malignant migrating partial seizures of infancy</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy/</span>
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<h1>Malignant migrating partial seizures of infancy</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay.</p><p>The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.</p><p>Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent.</p><p>Seizures can affect growth of the brain and lead to a small head size (<a class="image-modal" data-alt="Side view photo of a man showing a small cranium and a sloping forehead" data-caption="Decreased size of the cranium is accompanied by marked posterior sloping of the forehead." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001G1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001G1" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8ae2118220c1308f" data-title="Microcephaly" href="https://medlineplus.gov/images/PX0001G1_PRESENTATION.jpeg" id="PX0001G1_1" title="Show image">microcephaly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills.</p><p>Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>MMPSI is a rare condition. Although its prevalence is unknown, approximately 100 cases have been described in the medical literature.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>The genetic cause of MMPSI is not fully known. Mutations in the <i><a data-pid="19297" href="https://medlineplus.gov/genetics/gene/kcnt1/">KCNT1</a></i> gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other genes are also thought to be involved in the condition.</p><p>The <i>KCNT1</i> gene provides instructions for making a protein that forms potassium channels. Potassium channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals. Channels made with the KCNT1 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. This flow of ions is involved in generating currents to activate (excite) neurons and send signals in the brain.</p><p><i>KCNT1</i> gene mutations alter <a class="image-modal" data-alt="Pathogenic variants identified in KCNT1-related epilepsy" data-caption="Diagram of the KCNT1 protein and the position of pathogenic variants associated with KCNT1-related epilepsy" data-credit="GeneReviews, University of Washington" data-filepath="images/PX0002SA_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002SA" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK525917/figure/kcnt1-epilepsy.F1/" data-title="Pathogenic variants identified in KCNT1-related epilepsy" href="https://medlineplus.gov/images/PX0002SA_PRESENTATION.jpeg" id="PX0002SA_2" title="Show image">the KCNT1 protein<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Electrical currents generated by potassium channels made with the altered KCNT1 protein are abnormally increased, which allows unregulated excitation of neurons in the brain. Seizures develop when neurons in the brain are abnormally excited. It is unclear why seizure activity can migrate in MMPSI. Repeated seizures in affected individuals contribute to the developmental delay that is characteristic of this condition.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Malignant migrating partial seizures of infancy</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/kcnt1/">KCNT1</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/scn1a/">SCN1A</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/tbc1d24/">TBC1D24</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>MMPSI is not inherited from a parent and does not run in families. This condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Early infantile epileptic encephalopathy 14</li> <li>EIEE14</li> <li>Malignant migrating partial epilepsy of infancy</li> <li>Migrating partial epilepsy of infancy</li> <li>Migrating partial seizures in infancy</li> <li>Migrating partial seizures of infancy</li> <li>MMPSI</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3554195/" target="TheNewWin">Genetic Testing Registry: Developmental and epileptic encephalopathy, 14</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/12919/index" target="TheNewWin">Malignant migrating focal seizures of infancy</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Malignant migrating partial seizures of infancy%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/614959" target="TheNewWin">DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; DEE14</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28malignant+migrating+partial+seizures+of+infancy%29+OR+%28early+infantile+epileptic+encephalopathy+14%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+2520+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H,
Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova
JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. De novo
gain-of-function KCNT1 channel mutations cause malignant migrating partial
seizures of infancy. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441.
Epub 2012 Oct 21. <a href="https://pubmed.ncbi.nlm.nih.gov/23086397" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687547/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Coppola G. Malignant migrating partial seizures in infancy: an epilepsy
syndrome of unknown etiology. Epilepsia. 2009 May;50 Suppl 5:49-51. doi:
10.1111/j.1528-1167.2009.02121.x. <a href="https://pubmed.ncbi.nlm.nih.gov/19469847" target="TheNewWin">Citation on PubMed</a></li>
<li>Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T,
Osawa M, Hirose S, Yamamoto T. A recurrent KCNT1 mutation in two sporadic cases
with malignant migrating partial seizures in infancy. Gene. 2013 Dec
1;531(2):467-71. doi: 10.1016/j.gene.2013.08.096. Epub 2013 Sep 10. <a href="https://pubmed.ncbi.nlm.nih.gov/24029078" target="TheNewWin">Citation on PubMed</a></li>
<li>McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, Bhate S, Cronin
A, Curran A, Desurkar A, Farrell MA, Hughes E, Jefferson R, Lascelles K,
Livingston J, Meyer E, McLellan A, Poduri A, Scheffer IE, Spinty S, Kurian MA,
Kneen R. Migrating partial seizures of infancy: expansion of the electroclinical,
radiological and pathological disease spectrum. Brain. 2013 May;136(Pt
5):1578-91. doi: 10.1093/brain/awt073. Epub 2013 Apr 18. <a href="https://pubmed.ncbi.nlm.nih.gov/23599387" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634200/" target="TheNewWin">Free article on PubMed Central</a></li>
</ul>
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</section>
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