Epilepsy, Idiopathic Generalized 14 (EIG14)

Alias:

Epilepsy, Idiopathic Generalized, Susceptibility to, 14

Eig14

Idiopathic Generalized Epilepsy 14

{epilepsy, Idiopathic Generalized, Susceptibility to, 14}

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Epilepsy, Idiopathic Generalized 14, also known as epilepsy, idiopathic generalized, susceptibility to, 14, is related to lissencephaly 8 and developmental and epileptic encephalopathy 27. An important gene associated with Epilepsy, Idiopathic Generalized 14 is SLC12A5 (Solute Carrier Family 12 Member 5), and among its related pathways/superpathways is mBDNF and proBDNF regulation of GABA neurotransmission. Affiliated tissues include brain, and related phenotypes are seizure and bilateral tonic-clonic seizure

Related ID：

MALACARDS：EPL165

OMIM：616685

MESH：D004829