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Article

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

Clinical genetics - 1 Feb 2015

Pena S D J, Coimbra R L M

Abstract excerpt

We have recently performed exome analysis in a 7 year boy who presented in infancy with an encephalopathy characterized by ataxia and myoclonic epilepsy. Parents were not consanguineous and there was no family history of the disease. Exome analysis did not show any pathogenic variants in genes known to be associated with seizures and/or ataxia in children, including all known human channelopathies. However, we...

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Amino Acid Substitution
Ataxia
Channelopathies
Epilepsies, Myoclonic
Exome
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Source

Identifiers

PMID: 25477152
DOI: 10.1111/cge.12542

Genes

KCNA2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.PMID 25477152Read ↗

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