Developmental and Epileptic Encephalopathy 24 (DEE24)

Developmental and Epileptic Encephalopathy 24(来自ICD-11)
别称:
Epileptic Encephalopathy, Early Infantile, 24
Dee24
Developmental and Epileptic Encephalopathy, 24
Eiee24
Encephalopathy, Epileptic, Early Infantile, Type 24
Early Infantile Epileptic Encephalopathy 24
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Basic Information
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Developmental and Epileptic Encephalopathy 24, also known as epileptic encephalopathy, early infantile, 24, is related to tremor, hereditary essential, 1 and leber optic atrophy and dystonia. An important gene associated with Developmental and Epileptic Encephalopathy 24 is HCN1 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1), and among its related pathways/superpathways are Trk receptor signaling mediated by the MAPK pathway and TRP channels. Affiliated tissues include brain, and related phenotypes are intellectual disability and generalized non-motor (absence) seizure
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MALACARDS
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Unknown
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17
134
3

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