Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.
Spauschus
A
A
University Department of Clinical Neurology, Institute of Neurology/UCL, London, United Kingdom. A.Spauschus@ion.ucl.ac.uk
Eunson
L
L
Hanna
M G
MG
Kullmann
D M
DM
D000818:Animals; D001259:Ataxia / Q000235:genetics*; D003001:Cloning, Molecular; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D051662:Kv1.1 Potassium Channel; D008845:Microinjections; D009154:Mutation; D009865:Oocytes / Q000378:metabolism; D018408:Patch-Clamp Techniques; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012333:RNA, Messenger / Q000235:genetics; D014982:Xenopus laevis
C496946:KCNA1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D012333:RNA, Messenger; D051662:Kv1.1 Potassium Channel