scn8a-related Epilepsy: A Study from the Gulf Region
Abstract number :
3.307
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2024
Submission ID :
412
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Osama Muthaffar, MD – King Abdulaziz University
Mashael Alsubhan, MD – King Abdulaziz University
Ali Mir, MD – King Fahad Specialist Hospital Dammam
Mariam Ayed, MD – Sabah Maternity Hospital
Hind Alsharhan, MD – Farwaniyah Hospital
Mohammed Zakarriah, MD – Adan Hospital
Reem elshafie, MD – Kuwait Medical Genetics Center
Amna al Futaisi, MD – Sultan Qaboos University
Ahmed Bamaga, MD – King Abdulaziz University
khalid hundallah, MD – PSMMC
Brahim Tabaraki, MD – Prince Sultan Medical City
Rationale: Few cases of SCN8A-related epilepsy and/or neurodevelopmental disorders have been reported worldwide. In this multicenter study, seven centers participated to review and understand the clinical characteristics and outcomes of SCN8A-related epilepsy and/or neurodevelopmental disorders.
Methods: Medical charts of patients diagnosed with SCN8A-related epilepsy and/or neurodevelopmental disorders, from the Gulf region, have been reviewed. Demographics, medications, clinical characteristics and outcome were gathered through an online data collection link.
Results: Twenty-four patients diagnosed with SCN8A-related epilepsy and/or neurodevelopmental disorders were reviewed. Severe hospitals from Saudi Arabia, Kuwait, Oman and Iraq participated. The mean age was 6.3 years. Eleven females and 13 male patients presented all with seizures. Six patients presented initially with infantile spasms. Others had different epilepsy types like myoclonic, focal and generalized. All the patients experienced two of more antiseizure medications. Six of them were seizure free. Levetiracetam and valproic acid had good effect on seizure control. Thirty percent of them had movement disorders and all of them had development delay. Five patients had ADHH/ASD.
Conclusions: Our cohort from Middle East expands the spectrum of SCN8A-Related disorders. All of the cohort had developmental delay and epilepsy which represent a severe spectrum of the condition. In the era of precision medicine, medication selection can depend on the type of genetic mutation. Moreover, in the near future, gene therapy will alter the future of epilepsy genetics.
Funding: No
Clinical Epilepsy