Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human iPSC model for STXBP 1 ‐related epileptic encephalopathy

Syntaxin‐binding protein 1 ( STXBP 1) is essential for synaptic vesicle exocytosis. Mutations of its encoding gene, STXBP 1, are among the most frequent genetic causes of epileptic encephalopathies. However, the precise pathophysiology of STXBP 1 haploinsufficiency has not been elucidated. Using pat...

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Veröffentlicht in:	Epilepsia (Copenhagen) 2016-04, Vol.57 (4)
Hauptverfasser:	Yamashita, Satoshi, Chiyonobu, Tomohiro, Yoshida, Michiko, Maeda, Hiroshi, Zuiki, Masashi, Kidowaki, Satoshi, Isoda, Kenichi, Morimoto, Masafumi, Kato, Mitsuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Nakahata, Tatsutoshi, Saito, Megumu K., Hosoi, Hajime
Format:	Artikel
Sprache:	eng
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