Collaborator: NY Colombia Presbyterian Hospital

• Clinical exome sequencing identifies a novel gene, SNAP25, associated with seizures

  April 2, 2026

• Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

• Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers

  Abstract Kufor‐Rakeb Syndrome (KRS) is an autosomal recessive, juvenile‐onset Parkinson’s disease that has been reported in 11 kindreds. Mutations in ATP13A2, a Group 5 neuronal P‐type ATPase, lead to impairment of Mn2+ and Zn2+ metabolism, mitochondrial homeostasis, and lysosomal function. Patients with this disease present in adolescence with parkinsonism, pyramidal signs, dysarthria, dysphagia, and cognitive impairment. Brain imaging demonstrates…