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Article

A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.

Acta neurologica Belgica - 1 Sept 2010

Specchio Nicola, Trivisano Marina, Balestri Martina, Gennaro Elena, Specchio Luigi M, Fusco Lucia, Zara Federico, Vigevano Federico

Abstract excerpt

In this report we describe a novel missense SCN1A mutation in a patient affected by Severe Myoclonic Epilepsy Borderland (SMEB). This three and a half year-old female patient experienced prolonged febrile seizures at the age of 14 months, followed by generalized tonic-clonic seizures, atonic seizures, atypical absences almost in a cluster and triggered by fever. Cognitive and motor development was normal. The...

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Identifiers

PMID: 21114141

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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