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

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 disabi...

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Veröffentlicht in:	Journal of human genetics 2018-05, Vol.63 (5), p.673-676
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia Cerebellar ataxia Cerebellum Exocytosis Exons Intellectual disabilities Intelligence Isoforms Magnetic resonance imaging Mutation N-Ethylmaleimide-sensitive protein Seizures Siblings SNAP-25 protein
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