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Entry Name Description Category Pathway Gene
H00769 Hyperekplexia
Startle disease
Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated ... Nervous system disease (HKPX1) GLRA1 [HSA:2741] [KO:K05193]
(HKPX2) GLRB [HSA:2743] [KO:K05196]
(HKPX3) SLC6A5 [HSA:9152] [KO:K05038]
(HKPX4) ATAD1 [HSA:84896] [KO:K22530]
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