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中文Hyperekplexia 1 (HKPX1)
Alias:
Hkpx1
Exaggerated Startle Reaction
Stiff-Baby Syndrome
Kok Disease
Sthe
Hyperekplexia Hereditary 1 Autosomal Dominant or Recessive
Stiff-Person Syndrome, Congenital
Congenital Stiff-Person Syndrome
Stiff-Man Syndrome, Congenital
Startle Reaction, Exaggerated
Congenital Stiff-Man Syndrome
Hereditary Hyperexplexia 1
Startle Disease, Familial
Hyperekplexia, Hereditary
Familial Startle Disease
Hereditary Hyperexplexia
Stiff-Person Syndrome
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Hyperekplexia 1，也被称为hkpx1，与钼辅因子缺乏症和Hyperekplexia有关，症状包括发热、肌肉僵硬和反弓症。与Hyperekplexia 1有关的重要基因是GLRA1（甘氨酸受体α1）。在该疾病的背景下，已提到Picropodophyllin和Cytarabine这两种药物。附属组织包括骨骼肌和骨髓，相关表型为癫痫和腹股沟疝。
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MALACARDS
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