A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndrome - Sartori, Stefano; Di Rosa, Gabriella; Polli, Roberta; Bettella, Elisa; Tricomi, Giovanni; Tortorella, Gaetano; Murgia, Alessandra (American journal of medical genetics. Part A, 2009)
Keywords: 47,XXY karyotype; Age of Onset; Biological and medical sciences; CDKL5; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Developmental Disabilities; early‐onset epileptic encephalopathy; Follow-Up Studies; Gynecology. Andrology. Obstetrics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Infant; Klinefelter syndrome; Male; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical genetics; Medical sciences; Mutation; Nervous system (semeiology, syndromes); Neurology; Protein-Serine-Threonine Kinases - genetics; Rett Syndrome - genetics; Rett syndrome variant; Seizures - genetics; Sex Chromosome Disorders; X Chromosome Inactivation; Chromosomal aberration; Endocrinopathy; early-onset epileptic encephalopathy; mutation; Rett syndrome variant; Klinefelter syndrome; X-chromosome inactivation; 47,XXY karyotype; Epilepsy; Aneuploidy; Male; Supernumerary X chromosome; Inactivation; Encephalopathy; Degenerative disease; X-Chromosome; Neurological disorder; Male genital diseases; Child; Human; Nervous system diseases; CDKL5; Sexual differentiation disorder; Genetic disease; Cerebral disorder; Variant; Convulsion; Malformation; Central nervous system disease; Rett syndrome; Cytogenetics; Early; Mutation; Karyotype