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About 70 results

ALLMedicine™ Atypical Rett Syndrome Center

Research & Reviews  35 results

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057091
Molecular Genetics & Genomic Medicine; Takahashi S, Takeguchi R et. al.

Jan 16th, 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...
https://doi.org/10.1016/j.spen.2017.08.008
Seminars in Pediatric Neurology; Gerald B, Ramsey K et. al.

Jul 2nd, 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...

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893330
Journal of Child Neurology; Epperson MV, Haws ME et. al.

Jan 25th, 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...

Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation.
https://doi.org/10.1016/j.braindev.2017.07.007
Brain & Development; Harada K, Yamamoto M et. al.

Aug 6th, 2017 - The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypopla...

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hip...
https://doi.org/10.1016/j.nbd.2017.07.002
Neurobiology of Disease; Okuda K, Kobayashi S et. al.

Jul 9th, 2017 - Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe neurodevelopmental disorders accompanied by intractable epilepsies, i.e. West syndrome or atypical Rett syndrome. Here we report generation of the Cdkl5 knockout mouse and s...

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Clinicaltrials.gov  35 results

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057091
Molecular Genetics & Genomic Medicine; Takahashi S, Takeguchi R et. al.

Jan 16th, 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...
https://doi.org/10.1016/j.spen.2017.08.008
Seminars in Pediatric Neurology; Gerald B, Ramsey K et. al.

Jul 2nd, 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...

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893330
Journal of Child Neurology; Epperson MV, Haws ME et. al.

Jan 25th, 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...

Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation.
https://doi.org/10.1016/j.braindev.2017.07.007
Brain & Development; Harada K, Yamamoto M et. al.

Aug 6th, 2017 - The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypopla...

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hip...
https://doi.org/10.1016/j.nbd.2017.07.002
Neurobiology of Disease; Okuda K, Kobayashi S et. al.

Jul 9th, 2017 - Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe neurodevelopmental disorders accompanied by intractable epilepsies, i.e. West syndrome or atypical Rett syndrome. Here we report generation of the Cdkl5 knockout mouse and s...

see more →