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Article

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Journal of human genetics - 1 May 2012

Ono Shinji, Yoshiura Koh-ichiro, Kinoshita Akira, Kikuchi Taeko, Nakane Yoshibumi, Kato Nobumasa, Sadamatsu Miyuki, Konishi Tohru, Nagamitsu Shinichiro, Matsuura Masato, Yasuda Ayako, Komine Maki, Kanai Kazuaki, Inoue Takeshi, Osamura Toshio, Saito Kayoko, Hirose Shinichi, Koide Hiroyoshi, Tomita Hiroaki, Ozawa Hiroki, Niikawa Norio, Kurotaki Naohiro

Abstract excerpt

Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3...

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Identifiers

PMID: 22399141
DOI: 10.1038/jhg.2012.23

Genes

PRRT2

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Provenance

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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.PMID 22399141Read ↗

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.Semantic proximity Read ↗

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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Semantic proximity Read ↗

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.Semantic proximity Read ↗

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.Semantic proximity Read ↗

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.Semantic proximity Read ↗

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.Semantic proximity Read ↗

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.Semantic proximity Read ↗

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.Semantic proximity Read ↗

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese CohortSemantic proximity Read ↗

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