About 40 results

ALLMedicine™ Atypical Rett Syndrome Center

Research & Reviews  16 results

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
European Journal of Medical Genetics; Currò A, Doddato G et. al.

Nov 22nd, 2020 - Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-...

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Molecular Genetics & Genomic Medicine; Takahashi S, Takeguchi R et. al.

Jan 17th, 2020 - Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. Here, we report a rare case of a girl with RTT with an X chromosome mosaic karyotype (46,XX/47,XXX)...

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atyp...
Seminars in Pediatric Neurology; Gerald B, Ramsey K et. al.

Jul 3rd, 2018 - Epileptic encephalopathies are childhood brain disorders characterized by a variety of severe epilepsy syndromes that differ by the age of onset and seizure type. Until recently, the cause of many epileptic encephalopathies was unknown. Whole exom...

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient wi...
Gene Vineeth VS, Dutta UR et. al.

Jun 20th, 2018 - Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal development for 6-18 months followed by sudden growth arrest, psychomotor retardation and a ...

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
Journal of Child Neurology; Epperson MV, Haws ME et. al.

Jan 26th, 2018 - Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar...

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