A 14-year-old girl with hyperekplexia having GLRB mutations

Abstract Hyperekplexia manifests as generalized stiffness and an excessive startle reflex to stimuli. It starts in the neonatal period and is transmitted in many cases via autosomal dominant inheritance. The etiology is an abnormality of the glycinergic neurotransmission system that is involved in i...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2013-08, Vol.35 (7), p.660-663
Hauptverfasser:	Mine, Jun, Taketani, Takeshi, Otsubo, Shusuke, Kishi, Kazuko, Yamaguchi, Seiji
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age of Onset Antiepileptic agents Base Sequence Child Child, Preschool Female GLRB Humans Hyperekplexia Infant Infant, Newborn Mutation Neurology Nose-tapping test Receptors, Glycine - genetics Reflex epilepsy Startle disease Stiff-Person Syndrome - genetics
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