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Article

A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy.

No to hattatsu = Brain and development - 1 Sept 2016

Matsushita Hiroko Baber, Okano Sozo, Ishii Atsushi, Hirose Shinichi

Abstract excerpt

Benign familial infantile epilepsy (BFIE) is characterized by non-febrile focal seizures, which sometimes evolve to secondarily generalized seizures and are usually resolved in the second year. Proline-rich transmembrane protein 2 (PRRT2) is confirmed as the major cause of BFIE, familial paroxysmal kinesigeneic dystonia (PKD) and infantile convulsions and choreoathetosis (ICCA) syndrome. We examined a female...

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Source

Identifiers

PMID: 30010281

Genes

PRRT2

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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