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 New Ataxic Tottering-6j Mouse Allele Containing a Cacna1a Gene Mutation

PLoS ONE ◽  
2012 ◽  
Vol 7 (8) ◽  
pp. e44230 ◽  
Author(s):  
Weidong Li ◽  
Ying Zhou ◽  
Xiaoli Tian ◽  
Tae Yeon Kim ◽  
Namiko Ito ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Cacna1a Gene

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

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

P20.2 Spectrum of electroencephalographic changes in patients with S218L CACNA1A gene mutation

2006 ◽  
Vol 117 ◽  
pp. 215-216
Author(s):  
Y.-C. Chan ◽  
E. Wilder-Smith ◽  
J.-M. Burgunder ◽  
V. Sharma ◽  
B. Ong
Keyword(s):  
Gene Mutation ◽  
Cacna1a Gene
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