A case of epilepsy of infancy with migrating focal seizures caused by mosaic SCN2A mutation

Mutations of SCN2A (which encodes the voltage-gated sodium channel Nav1.2) cause different types of epilepsy and neurodevelopmental disorders. In this report, we present a case of epilepsy of infancy with migrating focal seizures (EIMFS) caused by a novel SCN2A missense mutation with mosaicism. From...

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Bibliographic Details
Published in:Epilepsy & Seizure 2022, Vol.14(1), pp.17-24
Main Authors: Urabe, Ryosuke, Abe, Yuichi, Kosaki, Rika, Koshimizu, Eriko, Miyatake, Satoko, Matsumoto, Naomichi, Kato, Mitsuhiro, Kubota, Masaya
Format: Article
Language:English
Subjects:
Epilepsy of infancy with migrating focal seizures
Mosaicism
Phenytoin
SCN2A
Sodium channel blocker
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Summary:Mutations of SCN2A (which encodes the voltage-gated sodium channel Nav1.2) cause different types of epilepsy and neurodevelopmental disorders. In this report, we present a case of epilepsy of infancy with migrating focal seizures (EIMFS) caused by a novel SCN2A missense mutation with mosaicism. From the second day of life, a full-term male infant with no perinatal abnormalities developed frequent focal seizures with symptoms that include apnea, ocular deviation, and brief tonic seizures. Based on electroencephalographic findings during an ictal phase, he was diagnosed with EIMFS. The epilepsy was resistant to several antiepileptic drugs, and phenytoin was the only effective medication. Whole-exome sequencing analysis revealed a de novo SCN2A missense mutation (c.488C>T, p.Thr163Ile) with mosaicism of about 15%. Thus, we concluded that physicians should accurately determine the genes to analyze based on medical history and that mosaicism should be considered during genetic analysis.
ISSN:1882-5567
1882-5567
DOI:10.3805/eands.14.17