KEGG DISEASE: Myoclonic-atonic epilepsy

DISEASE: Myoclonic-atonic epilepsy

Entry

H02361                      Disease

Name

Myoclonic-atonic epilepsy

Supergrp

Myoclonic-astatic epilepsy [DS:H01823]
Symptomatic generalized epilepsies [DS:H00577]

Description

Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder caused by mutations in SLC6A1. GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for reuptake of GABA from the synapse.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H02361  Myoclonic-atonic epilepsy

Pathway

hsa04727

GABAergic synapse

hsa04721

Synaptic vesicle cycle

Gene

SLC6A1 [HSA:6529] [KO:K05034]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:25865495

Authors

Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC

Title

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

Journal

Am J Hum Genet 96:808-15 (2015)
DOI:10.1016/j.ajhg.2015.02.016

Reference

PMID:19966779

Authors

Cope DW, Di Giovanni G, Fyson SJ, Orban G, Errington AC, Lorincz ML, Gould TM, Carter DA, Crunelli V

Title

Enhanced tonic GABAA inhibition in typical absence epilepsy.

Journal

Nat Med 15:1392-8 (2009)
DOI:10.1038/nm.2058

LinkDB

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