A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome

2020 ◽  
Vol 35 (5) ◽  
pp. 896-899
Author(s):  
Zahraa Haidar ◽  
Nadine Jalkh ◽  
Sandra Corbani ◽  
Joelle Abou‐Ghoch ◽  
Ali Fawaz ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Splicing Mutation ◽  
Atypical Rett Syndrome

Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

2021 ◽  
Author(s):  
Mainak Bardhan ◽  
Kiran Polavarapu ◽  
Nandeesh N. Bevinahalli ◽  
Preethish-Kumar Veeramani ◽  
Ram Murthy Anjanappa ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Rett Syndrome ◽  
Congenital Muscular Dystrophy ◽  
Atypical Rett Syndrome

Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation

2018 ◽  
Vol 40 (1) ◽  
pp. 49-52 ◽  
Author(s):  
Kotoha Harada ◽  
Mayumi Yamamoto ◽  
Yukihiko Konishi ◽  
Kaori Koyano ◽  
Satoru Takahashi ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Atypical Rett Syndrome

scholarly journals Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation

2018 ◽  
Vol 5 ◽  
pp. 2329048X1878794 ◽  
Author(s):  
Paulina Kyriakopoulos ◽  
Vanda McNiven ◽  
Melissa T. Carter ◽  
Peter Humphreys ◽  
David Dyment ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Intractable Epilepsy ◽  
Atypical Rett Syndrome

CDKL5 in Different Atypical Rett Syndrome Variants: Description of the First Eight Patients from Spain

2015 ◽  
Vol 04 (02) ◽  
pp. 092-094
Author(s):  
Qingping Zhang ◽  
Ying Zhao ◽  
Xiaoying Zhang ◽  
Jingjing Zhang ◽  
Guangna Cao ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Atypical Rett Syndrome

scholarly journals FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome

2015 ◽  
Vol 2 (1) ◽  
pp. 2329048X1456815 ◽  
Author(s):  
Christine K. Byun ◽  
Jin Sook Lee ◽  
Byung Chan Lim ◽  
Ki Joong Kim ◽  
Yong Seung Hwang ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Low Incidence ◽  
Atypical Rett Syndrome

Netrin G1 Mutations Are an Uncommon Cause of Atypical Rett Syndrome With or Without Epilepsy

2007 ◽  
Vol 37 (4) ◽  
pp. 270-274 ◽  
Author(s):  
Juliette Nectoux ◽  
Benoit Girard ◽  
Nadia Bahi-Buisson ◽  
Fabienne Prieur ◽  
Alexandra Afenjar ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Atypical Rett Syndrome

scholarly journals Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients

2013 ◽  
Vol 71 (6) ◽  
pp. 414-415
Author(s):  
Erica Leitao Ermel ◽  
Lauriane Caroline Carneiro ◽  
Carolina Fischinger Moura de Souza ◽  
Ana Chrystina de Souza Crippa ◽  
Maria Teresa Vieira Sanseverino ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Rett Syndrome ◽  
Epileptic Encephalopathy ◽  
Atypical Rett Syndrome

Developmental Profile of 3-Year-Old Girl with Atypical Rett Syndrome with Detection of a Currently Unpublished Mutation in the MECP2 Gen

2015 ◽  
Vol 46 (S 01) ◽  
Author(s):  
A. Lang-Dullenkopf ◽  
C. Künzle ◽  
K. Reicherter ◽  
O. Maier
Keyword(s):  
Rett Syndrome ◽  
Developmental Profile ◽  
Atypical Rett Syndrome

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

2018 ◽  
Vol 26 ◽  
pp. 28-32 ◽  
Author(s):  
Brittany Gerald ◽  
Keri Ramsey ◽  
Newell Belnap ◽  
Szabolcs Szelinger ◽  
Ashley L. Siniard ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Test Results ◽  
Genomic Test ◽  
Atypical Rett Syndrome

Identification and characterization of interacting proteins of CDKL5, a gene product responsible for West syndrome or atypical Rett syndrome

2011 ◽  
Vol 71 ◽  
pp. e401
Author(s):  
Kousue Okuda ◽  
Aya Watanabe ◽  
Masashi Mizuguchi ◽  
Teruyuki Tanaka
Keyword(s):  
Gene Product ◽  
Rett Syndrome ◽  
West Syndrome ◽  
Interacting Proteins ◽  
Identification And Characterization ◽  
Atypical Rett Syndrome
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