AIM In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations. METHOD In four genetically conf...

Rett Syndrome (RTT) is a neurodevelopmental disorder caused by pathogenic variants in the MECP2 gene. While majority of RTT-causing are clustered methyl-CpG binding domain and NCoR/SMRT interaction domain, we report female patient with functionally uncharacterized variant C-terminal c.1030 C>T (R344W). We characterized MECP2-R344W terms protein stability, complex interaction, nuclear localizati...

Australian & New Zealand Journal of Psychiatry, 49(7) with anti-migraine and anti-epileptic medications. Risperidone, olanzapine and clonidine were used without sustained benefit. A trial of escitalopram was initiated following parental request, based on their own investigation on a Rett syndrome Internet forum. An immediate benefit was noted which lasted for 3 months. Head-banging episodes red...

PURPOSE To describe communication and eating proficiency and related factors in Swedish females with Rett syndrome, from a parental/caregiver view. METHOD Data from a questionnaire were used and approached descriptively, qualitatively and comparatively. Parents/caregivers of 125 females with Rett syndrome completed the survey. The mean age of the females was 19.6 years. RESULTS Communicatio...

Five girls aged 4 to 13 years presented with clinical features of classical Rett syndrome - loss of acquired developmental skills including speech and hand function, progressive microcephaly and characteristic stereotyped "hand washing" movements. Two patients had generalized tonic, clonic seizures and one had atonic seizures with electroencephalogram (EEG) evidence of Lannox Gastaut syndrome. ...

x-chromosome inactivation (xci) is a process by which one of the copies of the x chromosome in mammalian female cells is inactivated. the xci causes a balanced x-linked gene quantity between male and females; moreover, it results mosaic females which have paternal active x in some cells and maternal active x in others. cellular mosaicism is a noteworthy phenomenon and lowers the risk of x-linke...