Niranjani Mani Urmila Deepti Kewalramani Umamaheshwari Balakrishnan Ranjith Kumar Manokaran
10.1016/j.ebr.2022.100573
Epilepsy Behav Rep
2022 Nov 7;20:100573.
carbonic anhydrase va deficiency epilepsy infantile spasms west syndrome
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36411877/
Case Reports
PMC9674490
36411877
A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene
2022