December 16, 2013PLoS ONEOpen Access

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

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Why the study?

Does a novel null homozygous mutation in CACNA2D2 contribute to epileptic encephalopathy?

Population

A single patient with epilepsy, dyskinesia, cerebellar atrophy, psychomotor delay and dysmorphic features…

Design

Case_report

Authors

Discussion

May warrant CACNA2D2 screening in unexplained epileptic encephalopathy; leaves open confirmatory studies.

Does a novel null homozygous mutation in CACNA2D2 contribute to epileptic encephalopathy?

Population

A single patient with epilepsy, dyskinesia, cerebellar atrophy, psychomotor delay and dysmorphic features, offspring to consanguineous parents.

Intervention

Whole exome sequencing (WES) for homozygosity mapping and mutation detection

Outcome

Identification of causal genetic mutations for epileptic encephalopathy

The identification of a novel null homozygous mutation in CACNA2D2 confirms its causal role in epileptic encephalopathy.

Pippucci et al. (2013) studied this question.

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