Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.
Kors
E E
EE
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Melberg
A
A
Vanmolkot
K R J
KR
Kumlien
E
E
Haan
J
J
Raininko
R
R
Flink
R
R
Ginjaar
H B
HB
Frants
R R
RR
Ferrari
M D
MD
van den Maagdenberg
A M J M
AM
D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D015220:Calcium Channels / Q000235:genetics / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017029:Epilepsy, Complex Partial / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000235:genetics*; D020326:Migraine without Aura / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D013548:Sweden; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type