Cortical Blindness and Epileptic Encephalopathy Due to a Previously Unknown Compound Heterozygous DIAPH1 Gene Mutation

2021 ◽  
Author(s):  
D. Mammadova
Keyword(s):  
Gene Mutation ◽  
Epileptic Encephalopathy ◽  
Cortical Blindness ◽  
Compound Heterozygous ◽  
Unknown Compound

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

A case of factor XI deficiency caused by compound heterozygous F11 gene mutation

Haemophilia ◽  
2009 ◽  
Vol 15 (2) ◽  
pp. 603-606 ◽  
Author(s):  
JING WANG ◽  
XUEFENG WANG ◽  
JING DAI ◽  
QIULAN DING ◽  
QIHUA FU ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Compound Heterozygous ◽  
Factor Xi ◽  
Factor Xi Deficiency

scholarly journals An early infantile epileptic encephalopathy 19 with dyskinesias due to a new GABRA1 gene mutation – identification of the first case in the Polish population

2017 ◽  
Vol 26 (53) ◽  
pp. 67-70
Author(s):  
Agnieszka Oknińska ◽  
◽  
Hanna Mierzewska ◽  
Robert Śmigiel ◽  
Małgorzata Rydzanicz ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Epileptic Encephalopathy ◽  
Polish Population ◽  
First Case ◽  
Mutation Identification

scholarly journals Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy

2019 ◽  
Vol 132 (1) ◽  
pp. 92-95 ◽  
Author(s):  
Peng-Peng Liu ◽  
Hu-Qing Ding ◽  
Shen-Zhen Huang ◽  
Sheng-Yong Yang ◽  
Ting Liu
Keyword(s):  
Gene Mutation ◽  
Hemolytic Anemia ◽  
Compound Heterozygous ◽  
Congenital Hemolytic Anemia

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
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