title: Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).
abstract: We report a female patient of German descent with a molecular diagnosis of SCA13 who presented with a history of cerebellar ataxia and epilepsy. The underlying mutation R420H had been shown to cause a dominant negative effect on the functional properties of the voltage-gated potassium channel KCNC3. Despite widespread KCNC3 expression in the central nervous system, the patient presented with a left mesiotemporal electroencephalogram focus and left hippocampal sclerosis. This is the first case, which reports an association between mesial temporal lobe epilepsy and spinocerebellar ataxia type 13. This demonstrates that epilepsy of structural-metabolic cause may be contingent upon genetically defined channelopathies.
authors.affiliation: Department of Neurology and Epilepsy Center, University of Marburg, Marburg, Germany.
authors.forename: Katrin
authors.initials: K
authors.lastname: Bürk
authors.forename: Adam
authors.initials: A
authors.lastname: Strzelczyk
authors.forename: Philipp S
authors.initials: PS
authors.lastname: Reif
authors.forename: Karla P
authors.initials: KP
authors.lastname: Figueroa
authors.forename: Stefan M
authors.initials: SM
authors.lastname: Pulst
authors.forename: Christine
authors.initials: C
authors.lastname: Zühlke
authors.forename: Wolfgang H
authors.initials: WH
authors.lastname: Oertel
authors.forename: Hajo M
authors.initials: HM
authors.lastname: Hamer
authors.forename: Felix
authors.initials: F
authors.lastname: Rosenow
mesh_terms: D004569:Electroencephalography; D004833:Epilepsy, Temporal Lobe / Q000150:complications* / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D051670:Shaw Potassium Channels / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000151:congenital; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000235:genetics / Q000601:surgery
chemical_list: C489594:KCNC3 protein, human; D051670:Shaw Potassium Channels