Associated Papers
BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients.
Karimzadeh P et al.
Annals of Medicine and Surgery (2012), 2025
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Novarino G et al.
Science (new York, N.y.), 2012
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