PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
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ABSTRACT:
SUBMITTER: Alkhater RA
PROVIDER: S-EPMC6292187 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
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<i>PI4K2A</i> deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
Alkhater Reem A RA Scherer Stephen W SW Minassian Berge A BA Walker Susan S
Annals of clinical and translational neurology 20181024 12
We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By genome sequencing, we identified a nonsense variant in the first exon of <i>PI4K2A</i> that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings. <i>PI4K2A</i> is highly expressed in the brain and a mouse model displays a neurological phenotype, implicating <i>PI4K2A</i> as a new di ...[more]
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