Clinical and Genetic Spectrum of <i>SCN8A</i> -Related Disorders: A Retrospective Study From the Gulf Region

This multicenter retrospective study examined the clinical characteristics and outcomes of 26 patients with sodium channel protein type 8 subunit alpha (<i>SCN8A)</i>-related epilepsy and/or neurodevelopmental disorders across the Gulf region. Data were collected from August 2024 to January 2025. Most patients (80.77%) experienced epilepsy onset within the first year of life, with a mean onset age of 8.25 months. Common features included developmental delay (69.57%), epileptic encephalopathy (73.08%), intellectual disability (46.15%), and movement disorders (34.62%). Genetic testing identified <i>SCN8A</i> mutations, primarily loss-of-function variants (65.38%), with missense mutations being most frequent. Seizure types varied, with generalized tonic-clonic (53.84%) and focal seizures (42.31%) being common. Levetiracetam and sodium channel blockers were the most used treatments. A seizure reduction of >50% was achieved in 65.38% of patients, and 26.92% became seizure-free. Loss-of-function mutations were linked to better outcomes. The study underscores the clinical variability of <i>SCN8A</i> disorders and the importance of personalized genetic diagnosis and targeted therapy.

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Publication Details

Journal
Journal of Child Neurology
Published
2025-12-01
DOI
https://doi.org/10.1177/08830738251396198
Primary Topic
Epilepsy research and treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

Clinical and Genetic Spectrum of SCN8A -Related Disorders: A Retrospective Study From the Gulf Region

Hadi A Helali, Osama Y. Muthaffar, Brahim Tabarki, Samar Almuntaser et al.
Journal of Child Neurology
Epilepsy research and treatment
article

Clinical and Genetic Spectrum of SCN8A -Related Disorders: A Retrospective Study From the Gulf Region

Hadi A Helali, Osama Y. Muthaffar, Brahim Tabarki, Samar Almuntaser, Nebal Waill Saadi, Mohamed O E Babiker, Reem M. Elshafie, Khalid Hundallah, Hanin Alsini, Mariam Ayed, Mohammed Oshi, Anas S. Alyazidi, Hind Alsharhan, Ali Mir, Amna Al‐Futaisi, Ahmed K. Bamaga, Mohamed Zakkariah, Mashael Alsubhan
article en

Abstract

This multicenter retrospective study examined the clinical characteristics and outcomes of 26 patients with sodium channel protein type 8 subunit alpha (<i>SCN8A)</i>-related epilepsy and/or neurodevelopmental disorders across the Gulf region. Data were collected from August 2024 to January 2025. Most patients (80.77%) experienced epilepsy onset within the first year of life, with a mean onset age of 8.25 months. Common features included developmental delay (69.57%), epileptic encephalopathy (73.08%), intellectual disability (46.15%), and movement disorders (34.62%). Genetic testing identified <i>SCN8A</i> mutations, primarily loss-of-function variants (65.38%), with missense mutations being most frequent. Seizure types varied, with generalized tonic-clonic (53.84%) and focal seizures (42.31%) being common. Levetiracetam and sodium channel blockers were the most used treatments. A seizure reduction of >50% was achieved in 65.38% of patients, and 26.92% became seizure-free. Loss-of-function mutations were linked to better outcomes. The study underscores the clinical variability of <i>SCN8A</i> disorders and the importance of personalized genetic diagnosis and targeted therapy.

Journal of Child Neurology
Riyadh Armed Forces Hospital (SA), University of Baghdad (IQ), King Abdulaziz University (SA), Baghdad Medical City (IQ), Adan Hospital (KW), Al Jalila Foundation (AE), Military Hospital (PK), King Fahad Specialist Hospital (SA), Kuwait University (KW), Armed Forces Hospital (SA), Children's Specialty Group (US), Ministry of Health (KW), Al-Sabah Hospital (KW), King Fahad Hospital Jeddah (SA), Children's Specialized Hospital (US), Sultan Qaboos University (OM)
Openalex Percentile: Top 56%
Epilepsy research and treatment
DOISourceOpenAlex
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