Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.

Abstract excerpt

BACKGROUND: Biallelic pathogenic variants in PNKP are associated with microcephaly and early-onset seizures (MCSZ), ataxia with oculomotor apraxia type 4 and Charcot-Marie-Tooth disease type 2B2. METHODS: We describe the clinical and neuroimaging features of 27 new patients with PNKP variants. All patients presented with early-onset seizures, congenital microcephaly and intellectual disability. In addition, we...

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