EA1	Episodic Ataxia Type 1
SNP	Single nucleotide polymorphism
TM	Transmembrane
CNS	Central nervous system
aa	Amino acid
vdW	van der Waals
PVP	Proline-Valine-Proline motif
IL	Intracellular Linker
EL	Extracellular Linker
PKD	Paroxysmal Kinesigenic Dyskinesia
EE	Epileptic Encephalopathy
PMC	Paradoxical Myotonic Congenita
DD	Developmental Delay
ID	Intellectual Disability
PDD	Pervasive Developmental Disorder
CNV	Copy number variant
SMEI	Severe myoclonic epilepsy of infancy
TE	Tonic extension