Neurology

CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome)

Mutations are X-linked dominant and the majority are de novo.

Testing for CDKL5-Related Infantile Spasms should be considered in those with Atypical Rett Syndrome, MECP2-negative Rett Syndrome, X-Linked Infantile Spasms (ISSX, West syndrome, or the Hanefield variant), complex seizures disorders with mental retardation, X-linked Mental Retardation, and Autism Spectrum Disorder.

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