Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

Aim The aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia. Method Clinical courses, responses to antiepileptic drugs, outcomes, and genetic testing were investigated in 17 Japanese patients (nine males, eight females, median age 1y, range...

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Veröffentlicht in:	Developmental medicine and child neurology 2015-04, Vol.57 (4), p.372-377
Hauptverfasser:	Mine, Jun, Taketani, Takeshi, Yoshida, Kazushi, Yokochi, Fusako, Kobayashi, Junpei, Maruyama, Koichi, Nanishi, Etsuro, Ono, Mayumi, Yokoyama, Atsushi, Arai, Hidee, Tamaura, Shiho, Suzuki, Yasuhiro, Otsubo, Shusuke, Hayashi, Takashi, Kimura, Masahiko, Kishi, Kazuko, Yamaguchi, Seiji
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Child Disease Progression Female Hernia, Umbilical - physiopathology Humans Infant Infant, Newborn Japan Male Middle Aged Muscle Rigidity - physiopathology Pedigree Receptors, Glycine - genetics Reflex, Startle - physiology Stiff-Person Syndrome - diagnosis Stiff-Person Syndrome - drug therapy Stiff-Person Syndrome - genetics
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