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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |