A first evidence of the great potential of the synergy between genetics, molecular biology, and neurophysiology for understanding the pathophysiology of depending on mutations of ion channel genes was provided by the work of the Jan (Jan et al. 1977; Timpe et al. 1988) on the fly Drosophila Melnogaster ( Fig. 20-1). The implications of genetically determined channel dysfunctions in different paroxysmal muscular and cardiac disorders have been increasingly acknowledged since the 1991 publication of the seminal paper by Ptaceck et al. ( 1991) concerning hyperkalemic periodic paralysis that established the concept of channelopathy. According to Ptaceck ( 1997), the term channelopathy designates genetically determined ion channel alterations that lead to acute and transient symptoms in subjects who otherwise seem to be perfectly normal. This definition fits idiopathic epilepsies, which are considered to depend on primary dysfunction of ion channels responsible for membrane...
KeywordsXenopus Oocyte Febrile Seizure Idiopathic Epilepsy Frontal Lobe Epilepsy Dravet Syndrome
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