Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Nav1.1

Summary Purpose: Generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI) are associated with sodium channel α‐subunit type‐1 gene (SCN1A) mutations. Febrile seizures and partial seizures occur in both GEFS+ and SMEI; sporadic onset and seizure aggrava...

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Veröffentlicht in:	Epilepsia (Copenhagen) 2010-09, Vol.51 (9), p.1669-1678
Hauptverfasser:	Liao, Wei‐Ping, Shi, Yi‐Wu, Long, Yue‐Sheng, Zeng, Yang, Li, Tian, Yu, Mei‐Juan, Su, Tao, Deng, Ping, Lei, Zhi‐Gang, Xu, Shu‐Jun, Deng, Wei‐Yi, Liu, Xiao‐Rong, Sun, Wei‐Wen, Yi, Yong‐Hong, Xu, Zao C., Duan, Shumin
Format:	Artikel
Sprache:	eng
Schlagworte:	Anticonvulsants. Antiepileptics. Antiparkinson agents Antiepileptic agents Biological and medical sciences Channelopathy DNA DNA sequencing Epilepsy Febrile seizures genomics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy High-performance liquid chromatography Hydrophobicity Medical sciences Missense mutation Nervous system (semeiology, syndromes) Neurology Neuropharmacology Partial epilepsy Pharmacology. Drug treatments Point mutation Polarity SCN1A Seizures Sodium channel Sodium channels (voltage-gated)
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