Developmental and Epileptic Encephalopathy 3 (DEE3)

Developmental and Epileptic Encephalopathy 3(来自ICD-11)
别称:
Epileptic Encephalopathy, Early Infantile, 3
Developmental and Epileptic Encephalopathy, 3
Early Myoclonic Encephalopathy
Eiee3
Dee3
Encephalopathy, Epileptic, Early Infantile, Type 3
Neonatal Epilepsy with Suppression-Burst Pattern
Early Infantile Epileptic Encephalopathy 3
Eme
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Developmental and Epileptic Encephalopathy 3, also known as epileptic encephalopathy, early infantile, 3, is related to early myoclonic encephalopathy and developmental and epileptic encephalopathy 4, and has symptoms including muscle spasticity An important gene associated with Developmental and Epileptic Encephalopathy 3 is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways is Nuclear receptors meta-pathway. Affiliated tissues include brain, and related phenotypes are seizure and spasticity
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MALACARDS
AR
Unknown
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7
32
4

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