Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation

Although several genes for idiopathic epilepsies from families with simple Mendelian inheritance have been found, genes for the common idiopathic generalized epilepsies, where inheritance is complex, presently are elusive. We studied a large family with epilepsy where the two main phenotypes were ch...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2003-01, Vol.126 (1), p.230-240
Hauptverfasser:	Marini, Carla, Harkin, Louise A., Wallace, Robyn H., Mulley, John C., Scheffer, Ingrid E., Berkovic, Samuel F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences CAE = childhood absence epilepsy childhood absence epilepsy epilepsy FS = febrile seizures GABAA receptor GEFS+ = generalized epilepsy with febrile seizures plus genetics GTCS = generalized tonic–clonic seizures Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy IGE = idiopathic generalized epilepsy JME = juvenile myoclonic epilepsy linkage analysis MAE = myoclonic–astatic epilepsy Medical sciences Nervous system (semeiology, syndromes) Neurology Tropical medicine
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