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Article

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2014

Zerem Ayelet, Lev Dorit, Blumkin Lubov, Goldberg-Stern Hadassa, Michaeli-Yossef Yael, Halevy Ayelet, Kivity Sara, Nakamura Kazuyuki, Matsumoto Naomichi, Leshinsky-Silver Esther, Saitsu Hirotomo, Lerman-Sagie Tally

Abstract excerpt

Ohtahara syndrome is a devastating early infantile epileptic encephalopathy caused by mutations in different genes. We describe a patient with Ohtahara syndrome who presented on the first day of life with refractory tonic seizures and a suppression-burst pattern on EEG. The patient developed severe microcephaly, and never achieved any developmental milestones. He died at the age of 5 years. A de novo missense...

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Source

Identifiers

PMID: 24814476
DOI: 10.1016/j.ejpn.2014.04.008

Genes

KCNQ2
STXBP1

Provenance

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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