Clinical presentation of IDDMSSD syndrome likely associated with molecular location of mutation in PAK1 gene

A recent study from Texas Children’s Hospital and Baylor College of Medicine has expanded the clinical spectrum of a new epileptic disorder called Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD) with the identification of the first recurrently affected residue identified in the protein kinase domain of PAK1 protein.

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