EP339: Ending the diagnostic odyssey: De novo mosaic pathogenic 2,123 bp deletion in CDKL5 identified on genome sequencing

Abstract

Epileptic encephalopathies are a wide-ranging group of disorders that can have serious developmental challenges and prognoses. CDKL5 Deficiency Disorder is an X-linked developmental and epileptic encephalopathy characterized by intractable epilepsy presenting in the first six months of life, profound developmental delay, and stereotypies including hand-wringing. Seizures are generally refractory, leading to many medications, steroid treatments, and ketogenic diets to be trialed. Other common symptoms include cerebral visual impairment, acquired microcephaly, hypotonia, feeding difficulties, scoliosis, apraxia, and involvement of respiratory and cardiac issues.