scholarly journals Correction to: Perampanel treatment in early-onset epileptic encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up

2021 ◽  
Author(s):  
Daniela Dicanio ◽  
Antonio Gennaro Nicotera ◽  
F. Cucinotta ◽  
G. Di Rosa
Keyword(s):  
Gene Mutation ◽  
Movement Disorders ◽  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy

scholarly journals A Novel Heterozygous Missense Variant in YWHAG Gene Cause Early-Onset Epilepsy in a Chinese Family

2020 ◽  
Author(s):  
Zhi Yi ◽  
Zhenfeng Song ◽  
Jiao Xue ◽  
Chengqing Yang ◽  
Fei Li ◽  
...  
Keyword(s):  
Early Onset ◽  
Seizure Control ◽  
De Novo ◽  
Missense Variant ◽  
Epileptic Encephalopathy ◽  
Chinese Family ◽  
Gene Variants ◽  
Case Presentation ◽  
Epileptic Encephalopathies ◽  
Refractory Seizures

Abstract Background: Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of severe disorders which are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes for them. De novo variants in an increasing number of candidate genes have been found to be causal. YWHAG gene variants have been reported to cause developmental and epileptic encephalopathy 56 (DEE56). Case presentation: Here, we report a novel heterozygous missense variant c.170G>A (p.R57H) in YWHAG gene cause early-onset epilepsy in a Chinese family. Both the proband and his mother exhibit early onset seizures, intellectual disability, developmental delay. While the proband achieve seizure control with sodium valproate, his mother's seizures were not well controlled. Conclusions: Our report further confirming the haploinsufficiency of YWHAG results in developmental and epileptic encephalopathies.

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

2017 ◽  
Vol 39 (3) ◽  
pp. 256-260 ◽  
Author(s):  
Tomokazu Kimizu ◽  
Yukitoshi Takahashi ◽  
Taikan Oboshi ◽  
Asako Horino ◽  
Takayoshi Koike ◽  
...  
Keyword(s):  
Clinical Features ◽  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
De Novo Mutation

Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation

Medicine ◽  
2020 ◽  
Vol 99 (22) ◽  
pp. e20507
Author(s):  
Chen Chen ◽  
Yunpeng Hao ◽  
Jianmin Liang ◽  
Xuncan Liu
Keyword(s):  
Gene Mutation ◽  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Congenital Microcephaly

scholarly journals De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

2018 ◽  
Vol 83 (4) ◽  
pp. 794-806 ◽  
Author(s):  
Mitsuko Nakashima ◽  
Mitsuhiro Kato ◽  
Kazushi Aoto ◽  
Masaaki Shiina ◽  
Hazrat Belal ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

2011 ◽  
Vol 155 (11) ◽  
pp. 2879-2884 ◽  
Author(s):  
Hirotomo Saitsu ◽  
Noboru Igarashi ◽  
Mitsuhiro Kato ◽  
Ippei Okada ◽  
Tomoki Kosho ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Severe Intellectual Disability

scholarly journals Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

2017 ◽  
Vol 3 (1) ◽  
pp. 81-85 ◽  
Author(s):  
Satoshi Akamine ◽  
Noriaki Sagata ◽  
Yasunari Sakai ◽  
Takahiro A. Kato ◽  
Takeshi Nakahara ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
De Novo ◽  
Epileptic Encephalopathy
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