Ataxia and cerebellar anomalies - narrow panelGene: KCNA2
Ataxia is part of the phenotype.
Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.
Sources: Expert list
Created: 12 Sep 2020, 4:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early infantile encephalopathy 32, MIM#616366
Variants in this GENE are reported as part of current diagnostic practice
gene: KCNA2 was added gene: KCNA2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA2 were set to 29050392 Phenotypes for gene: KCNA2 were set to Early infantile encephalopathy 32, MIM#616366 Review for gene: KCNA2 was set to GREEN gene: KCNA2 was marked as current diagnostic