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Article

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Epilepsia - 1 Apr 2017

Symonds Joseph D, Joss Shelagh, Metcalfe Kay A, Somarathi Suresh, Cruden Jamie, Devlin Anita M, Donaldson Alan, DiDonato Nataliya, Fitzpatrick David, Kaiser Frank J, Lampe Anne K, Lees Melissa M, McLellan Ailsa, Montgomery Tara, Mundada Vivek, Nairn Lesley, Sarkar Ajoy, Schallner Jens, Pozojevic Jelena, Parenti Ilaria, Tan Jeen, Turnpenny Peter, Whitehouse William P, Zuberi Sameer M

Abstract excerpt

OBJECTIVE: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which...

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Source

Identifiers

PMID: 28166369
DOI: 10.1111/epi.13669

Genes

PCDH19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28166369-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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