Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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
PI4K2A
that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings.
PI4K2A
is highly expressed in the brain and a mouse model displays a neurological phenotype, implicating
PI4K2A
as a new disease gene for a neurological disorder.
...
PMID:
PI4K2A
deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome. 3056 27
