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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.

Authors: Badv, Reza Shervin¹ (AUTHOR), Shariatmadari, Fakhreddin^1,2 (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.

Subject Terms: *MYOCLONUS, *POTASSIUM channels, *ETIOLOGY of diseases, *GENETIC disorder diagnosis, *EPILEPSY

Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency

Authors: Habibi Zoham, Mojdeh, Eghbalkhah, Asgar, Kamrani, Kamyar, Khosroshahi, Nahid, Yousefimanesh, Hossein, Eskandarizadeh, Zahra

Source: Journal of Pediatric Intensive Care; September 2018, Vol. 7 Issue: 3 p159-162, 4p

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