KEGG   DISEASE: Idiopathic generalized epilepsies (IGEs)Help
H00808                      Disease                                

Idiopathic generalized epilepsies (IGEs), including:
Childhood absence epilepsy (CAE);
Juvenile absence epilepsy (JAE);
Juvenile myoclonic epilepsy (JME);
Epilepsy with generalized tonic-clonic seizures alone;
Familial infantile myoclonic epilepsy (FIME)
Idiopathic generalized epilepsies (IGEs) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone. Although autosomal dominant inheritance occurs in rare families, clinical genetic data indicate that complex inheritance involving two or more genes is likely in the majority of families.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00808  Idiopathic generalied epilepsies (IGEs)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G40  Epilepsy and recurrent seizures
    H00808  Idiopathic generalied epilepsies (IGEs)
BRITE hierarchy
Neuroactive ligand-receptor interaction
Mineral absorption
GABAergic synapse
MAPK signaling pathway
Cardiac muscle contraction
(CAE2) GABRG2 [HSA:2566] [KO:K05186]
(JAE2, CAE3) CLCN2 [HSA:1181] [KO:K05011]
(CAE4, JME4) GABRA1 [HSA:2554] [KO:K05175]
(CAE5) GABRB3 [HSA:2562] [KO:K05181]
(CAE6) CACNA1H [HSA:8912] [KO:K04855]
(JME1, JAE1) EFHC1 [HSA:114327]
(JME5) CACNB4 [HSA:785] [KO:K04865]
(FIME) TBC1D24 [HSA:57465] [KO:K21841]
EEG monitoring
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Genetic, structural-metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic.
Other DBs
PMID:15101828 (description, marker)
Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
Epilepsia 45:467-78 (2004)
PMID:18754913 (description, gene, marker)
Weber YG, Lerche H
Genetic mechanisms in idiopathic epilepsies.
Dev Med Child Neurol 50:648-54 (2008)
PMID:20727515 (name, gene)
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Am J Hum Genet 87:365-70 (2010)
PMID:15048902 (gene)
Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
Ann Neurol 55:595-6 (2004)
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Epilepsia 51:676-85 (2010)

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