Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report

Epilepsy is one of the most common neurological disorders affecting approximately 50 million people worldwide. It impacts people of all genders and ages, but evidence suggests a higher incidence rate in children and the elderly.Given that childhood epilepsy has the risk of causing developmental epil...

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Hlavní autoři:	Sultan Makhmetov, Kamila Temirkhanova, Saule Rakhimova, Nazerke Satvaldina, Ruslan Kalendar, Ulan Kozhamkulov, Aidos Bolatov, Mirgul Bayanova, Assiya Bazenova, Lyazzat Nazarova, Ainur Akilzhanova, Ulykbek Kairov
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2025-01-01
Edice:	Heliyon
Témata:	Epilepsy Infantile seizures Acetylcholine receptor alpha 2 subunit Benign familial infantile seizures (BFIS) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2405844024175159
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