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Article

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

Journal of human genetics - 1 May 2018

Fukuda Hiroyuki, Imagawa Eri, Hamanaka Kohei, Fujita Atsushi, Mitsuhashi Satomi, Miyatake Satoko, Mizuguchi Takeshi, Takata Atsushi, Miyake Noriko, Kramer Uri, Matsumoto Naomichi, Fattal-Valevski Aviva

Abstract excerpt

SNAP25 is a core component of the soluble N-ethylmaleimide-sensitive factor attachment receptor complex, which plays a critical role in synaptic vesicle exocytosis. To date, six de novo SNAP25 mutations have been reported in patients with neurological features including seizures, intellectual disability, severe speech delay, and cerebellar ataxia. Here, we analyzed an Israeli family with two affected siblings...

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Identifiers

PMID: 29491473
DOI: 10.1038/s10038-018-0421-3

Genes

SNAP25

Variants

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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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