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Article

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

Annals of neurology - 1 Aug 2000

Phillips H A, Marini C, Scheffer I E, Sutherland G R, Mulley J C, Berkovic S F

Abstract excerpt

Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to mutations in CHRNA4. The commoner presentation of sporadic nocturnal frontal lobe epilepsy has not been associated with genetic defects. A 30-year-old woman diagnosed as having sporadic nocturnal frontal lobe epilepsy was found to have a de novo Ser252Leu CHRNA4 mutation. A pattern is emerging of site-specific mutation within the second...

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Source

Identifiers

PMID: 10939581

Genes

CHRNA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A de novo mutation in sporadic nocturnal frontal lobe epilepsy.PMID 10939581Read ↗

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