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 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy

2017 ◽  
Vol 91 (5) ◽  
pp. 717-724 ◽  
Author(s):  
Q. Zhang ◽  
J. Li ◽  
Y. Zhao ◽  
X. Bao ◽  
L. Wei ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Chinese Patients ◽  
Gene Mutation Analysis

P131 A novel CDKL5 gene mutation associated with a severe Rett syndrome-like phenotype and early onset epileptic encephalopathy

2009 ◽  
Vol 13 ◽  
pp. S60-S61
Author(s):  
S.D. Mastroyianni ◽  
K. Voudris ◽  
E. Katsarou ◽  
A. Attilakos ◽  
D. Delis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
Early Onset ◽  
Epileptic Encephalopathy

Severe Epileptic Encephalopathy in Siblings due to a Novel Heterozygous CACNA1A Gene Mutation

2019 ◽  
Author(s):  
Dilbar Mammadova ◽  
Cornelia Kraus ◽  
Thomas Leis ◽  
Regina Trollmann
Keyword(s):  
Gene Mutation ◽  
Epileptic Encephalopathy ◽  
Cacna1a Gene

scholarly journals Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

2020 ◽  
pp. 100417
Author(s):  
Atsuko Arisaka ◽  
Mitsuko Nakashima ◽  
Satoko Kumada ◽  
Kenji Inoue ◽  
Hiroya Nishida ◽  
...  
Keyword(s):  
Literature Review ◽  
Early Onset ◽  
Case Series ◽  
Epileptic Encephalopathy ◽  
Involuntary Movements
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