Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene

2018 ◽  
Vol 85 (12) ◽  
pp. 1134-1135 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Maya Bhat ◽  
Asha Benakappa
Keyword(s):  
Refractory Epilepsy ◽  
Novel Mutation ◽  
Tay Sachs Disease ◽  
Hexa Gene ◽  
Autistic Regression

Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene

2015 ◽  
Vol 262 (4) ◽  
pp. 1072-1073 ◽  
Author(s):  
Claudia Stendel ◽  
Constanze Gallenmüller ◽  
Katrin Peters ◽  
Friederike Bürger ◽  
Gwendolyn Gramer ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Tay Sachs Disease ◽  
Hexa Gene ◽  
Paranoid Delusion

A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin

2000 ◽  
Vol 57 (5) ◽  
pp. 398-400 ◽  
Author(s):  
M. Karpati ◽  
L. Peleg ◽  
E. Gazit ◽  
E. Akstein ◽  
B. Goldman
Keyword(s):  
Novel Mutation ◽  
Tay Sachs Disease ◽  
Hexa Gene

Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease

1995 ◽  
Vol 89 (4) ◽  
pp. 296-304 ◽  
Author(s):  
Masako Taniike ◽  
Shoji Yamanaka ◽  
Richard L. Proia ◽  
Clarita Langaman ◽  
Teresa Bone-Turrentine ◽  
...  
Keyword(s):  
Targeted Disruption ◽  
Tay Sachs Disease ◽  
Hexa Gene

scholarly journals Identification of novel mutations in HEXA gene in children affected with Tay-Sachs disease from India

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P53
Author(s):  
Mehul Mistri ◽  
Chaitanya Datar ◽  
Frenny Sheth ◽  
Sarita Gupta ◽  
Jayesh Sheth
Keyword(s):  
Novel Mutations ◽  
Tay Sachs Disease ◽  
Hexa Gene

scholarly journals Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.

1994 ◽  
Vol 91 (21) ◽  
pp. 9975-9979 ◽  
Author(s):  
S. Yamanaka ◽  
M. D. Johnson ◽  
A. Grinberg ◽  
H. Westphal ◽  
J. N. Crawley ◽  
...  
Keyword(s):  
Targeted Disruption ◽  
Tay Sachs Disease ◽  
Pathologic Features ◽  
Hexa Gene

Analysis of polymorphic markers located in the HEXA gene region associated with Tay-Sachs disease

Meta Gene ◽  
2020 ◽  
Vol 26 ◽  
pp. 100772
Author(s):  
Nasrin Vahhab ◽  
Nasim Ebrahimi ◽  
Farzane Amirmahani ◽  
Sadeq Vallian
Keyword(s):  
Gene Region ◽  
Polymorphic Markers ◽  
Tay Sachs Disease ◽  
Hexa Gene

Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor

Neurogenetics ◽  
2004 ◽  
Vol 5 (1) ◽  
pp. 35-40 ◽  
Author(s):  
Mazal Karpati ◽  
Ephraim Gazit ◽  
Roberto Colombo ◽  
Leah Peleg ◽  
Boleslaw Goldman ◽  
...  
Keyword(s):  
Tay Sachs Disease ◽  
Hexa Gene

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

1995 ◽  
Vol 6 (12) ◽  
pp. 844-849 ◽  
Author(s):  
M. Cohen-Tannoudji ◽  
P. Marchand ◽  
S. Akli ◽  
S. A. Sheardown ◽  
J. P. Puech ◽  
...  
Keyword(s):  
Lysosomal Storage ◽  
Tay Sachs Disease ◽  
Hexa Gene
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