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A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.

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Bibliographic Details
Title: A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.
Authors: Badv, Reza Shervin1 (AUTHOR), Shariatmadari, Fakhreddin1,2 (AUTHOR), Bayat, Shiva3 (AUTHOR), Memarian, Sara1 (AUTHOR), Esteghamat Hanzae, Samaneh1 (AUTHOR), Yousefimanesh, Hossein1 (AUTHOR) Yousefimaneshhossein@gmail.com
Source: Egyptian Journal of Medical Human Genetics. 11/4/2024, Vol. 25 Issue 1, p1-4. 4p.
Database: Academic Search Ultimate
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ISSN:11108630
DOI:10.1186/s43042-024-00603-5