Mild presentation of the congenital variant Rett syndrome in a Pakistani male

2020 ◽  
Vol 29 (2) ◽  
pp. 111-113
Author(s):  
Aleena Arij Khan ◽  
Salman Kirmani
Keyword(s):  
Rett Syndrome ◽  
Congenital Variant

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

2009 ◽  
Vol 52 (2-3) ◽  
pp. 148-152 ◽  
Author(s):  
Maria Antonietta Mencarelli ◽  
Tjitske Kleefstra ◽  
Eleni Katzaki ◽  
Filomena Tiziana Papa ◽  
Monika Cohen ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Microdeletion Syndrome ◽  
Congenital Variant

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

2012 ◽  
Vol 34 (7) ◽  
pp. 601-604 ◽  
Author(s):  
Yu Kobayashi ◽  
Tsukasa Ohashi ◽  
Noriyuki Akasaka ◽  
Jun Tohyama
Keyword(s):  
Rett Syndrome ◽  
Large Deletion ◽  
Congenital Variant

scholarly journals Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

2013 ◽  
Vol 21 (12) ◽  
pp. 1349-1355 ◽  
Author(s):  
Christophe Goubau ◽  
Koen Devriendt ◽  
Nathalie Van der Aa ◽  
An Crepel ◽  
Dagmar Wieczorek ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Position Effect ◽  
Platelet Defects ◽  
Congenital Variant

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

2009 ◽  
Vol 47 (1) ◽  
pp. 49-53 ◽  
Author(s):  
M. A. Mencarelli ◽  
A. Spanhol-Rosseto ◽  
R. Artuso ◽  
D. Rondinella ◽  
R. De Filippis ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Congenital Variant

scholarly journals A Forkhead box G1 (FOXG1) gene mutation in an Indian patient with a congenital variant of Rett syndrome.

2020 ◽  
Vol 7 (8) ◽  
pp. 442-445
Author(s):  
Dr. Sai Chandar Dudipala ◽  
◽  
Dr. Naveen Reddy Cheruku ◽  
Dr. Krishna Chaithanya Battu ◽  
◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Frameshift Mutation ◽  
Global Developmental Delay ◽  
Separate Entity ◽  
Indian Patient ◽  
Forkhead Box ◽  
History Of ◽  
Foxg1 Syndrome ◽  
Congenital Variant ◽  
Atypical Variant

A congenital variant of rett syndrome or Forkhead box G1 (FOXG1) syndrome is a rareneurodevelopmental disorder characterized by global developmental delay, microcephaly, autisticfeatures, early-onset dyskinesia, and seizures. Once it was described as one atypical variant of rettsyndrome but now considered as a separate entity. The current study found one girl carrying the denovo c.500-501incG frameshift mutation in the FOXG1 gene by genetic analysis during theevaluation for severe chronic encephalopathy. In literature, only one case was reported from Indiawith FOXG1 mutation. The FOXG1 mutation should be considered in children with a history of globaldevelopmental delay, dyskinesia, and microcephaly with characteristic brain neuroimaging findings.

FOXG1mutations in Japanese patients with the congenital variant of Rett syndrome

2011 ◽  
Vol 82 (6) ◽  
pp. 569-573 ◽  
Author(s):  
S Takahashi ◽  
N Matsumoto ◽  
A Okayama ◽  
N Suzuki ◽  
A Araki ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Japanese Patients ◽  
Congenital Variant

A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome

2014 ◽  
Vol 36 (8) ◽  
pp. 725-729 ◽  
Author(s):  
Akira Kumakura ◽  
Satoru Takahashi ◽  
Kazuki Okajima ◽  
Daisuke Hata
Keyword(s):  
Rett Syndrome ◽  
Congenital Variant

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

Neurogenetics ◽  
2010 ◽  
Vol 12 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Tangui Le Guen ◽  
Nadia Bahi-Buisson ◽  
Juliette Nectoux ◽  
Nathalie Boddaert ◽  
Yann Fichou ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Congenital Variant
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