Epilepsy, Familial Adult Myoclonic, 2 (FAME2)

Epilepsy, Familial Adult Myoclonic, 2(来自ICD-11)
别称:
Benign Adult Familial Myoclonic Epilepsy 2
Bafme2
Fcmte2
Fame2
Adcme
Cortical Myoclonic Tremor with Epilepsy, Familial, 2
Cortical Myoclonus and Epilepsy, Autosomal Dominant
Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Familial Adult Myoclonic Epilepsy 2
Autosomal Dominant Cortical Myoclonus and Epilepsy
Familial Cortical Myoclonic Tremor and Epilepsy 2
Epilepsy, Myoclonic, Familial Adult, Type 2
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Epilepsy, Familial Adult Myoclonic, 2, also known as benign adult familial myoclonic epilepsy 2, is related to epilepsy, familial adult myoclonic, 1 and epilepsy, familial adult myoclonic, 3, and has symptoms including myoclonus An important gene associated with Epilepsy, Familial Adult Myoclonic, 2 is STARD7 (StAR Related Lipid Transfer Domain Containing 7), and among its related pathways/superpathways is 2q11.2 copy number variation syndrome. Affiliated tissues include brain, and related phenotypes are cognitive impairment and myoclonus
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MALACARDS
AD
Unknown
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11
62
10

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