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Article

Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).

Journal of child neurology - 1 Oct 2010

Arlier Zulfikar, Bayri Yasar, Kolb Luis E, Erturk Ozdem, Ozturk Ali K, Bayrakli Fatih, Bilguvar Kaya, Moliterno Jennifer A, Dervent Aysin, Demirbilek Veysi, Yalcinkaya Cengiz, Korkmaz Baris, Tuysuz Beyhan, Gunel Murat

Abstract excerpt

Severe myoclonic epilepsy of infancy (SMEI) (OMIM #607208), also known as Dravet syndrome, is a rare genetic disorder characterized by frequent generalized, unilateral clonic or tonic-clonic seizures that begin during the first year of life. Heterozygous de novo mutations in the SCN1A gene, which encodes the neuronal voltage-gated sodium channel α subunit type 1 (Nav1.1), are responsible for Dravet syndrome, with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20110217
DOI: 10.1177/0883073809357241

Genes

GABRG2
PCDH19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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