Dravet Syndrome (DRVT)

Alias:

Severe Myoclonic Epilepsy of Infancy

Severe Myoclonic Epilepsy in Infancy

Smei

Developmental and Epileptic Encephalopathy 6a

Dee6a

Developmental and Epileptic Encephalopathy, 6

Epileptic Encephalopathy, Early Infantile, 6

Severe Myoclonus Epilepsy of Infancy

Eiee6

Drvt

Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures

Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures

Developmental and Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Smei-Borderland More Than One Feature

Infantile Severe Myoclonic Epilepsy

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Borderline Smei

Smei-Borderland

Smeb-Sw

Smeb-M

Smeb-O

Icegtc

Dee6

Smeb

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dravet Syndrome, also known as severe myoclonic epilepsy of infancy, is related to generalized epilepsy with febrile seizures plus and developmental and epileptic encephalopathy 52, and has symptoms including ataxia, absence seizures and myoclonic seizures. An important gene associated with Dravet Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. The drugs Liver Extracts and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are developmental regression and focal-onset seizure

Related ID：

MALACARDS：DRV001

OMIM：607208

MESH：D004831

ICD11：1255654700