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Article

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.

Neurology - 10 Oct 2006

Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio M R, Gaggero R, Pierluigi M, Minetti C, Zara F

Abstract excerpt

OBJECTIVE: To identify cryptic chromosomal deletions involving SCN1A in patients with severe myoclonic epilepsy of infancy (SMEI). METHODS: Thirty-nine patients with SMEI and without SCN1A point mutations and their parents were typed with 14 intragenic SCN1A polymorphisms to identify hemizygosity...

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Source

Identifiers

PMID: 17030758
DOI: 10.1212/01.wnl.0000238513.70878.54

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17030758-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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