Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the autosomal-dominant EAs and are caused by dysfunction of neuronal voltage-gated ion channels. There are central and peripheral nervous system manifestations in both conditions. The current classification is based on genetics and actually includes seven distinct subtypes. But these variants other than EA1 and EA2 are rare, some only occurring in single families, and gene mutations have not been identified in all. It is quite likely, however, that the number of phenotypes and mutated genes will grow further.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A03 Ataxic disorders
H00749 Episodic ataxias
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H00749 Episodic ataxias
Cellular process
nt06544 Neuroactive ligand signaling
H00749 Episodic ataxias
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH
Title
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM
Title
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
