Cargando…

Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital

Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic presentations. Methods: A retrospective chart r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bashiri, Fahad A., AlSheikh, Rawan, Hamad, Muddathir H., Alsheikh, Hamad, Alsheikh, Rana Abdullah, Kentab, Amal, AlTheeb, Najd, Alghamdi, Malak
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453392/ https://www.ncbi.nlm.nih.gov/pubmed/37628333 http://dx.doi.org/10.3390/children10081334

Ejemplares similares

Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center
por: Kentab, Amal Y., et al.
Publicado: (2022)

Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center
por: Bashiri, Fahad A., et al.
Publicado: (2022)

Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center
por: Bashiri, Fahad A., et al.
Publicado: (2021)

Validity and feasibility of the Arabic version of distress thermometer for Saudi cancer patients
por: Alosaimi, Fahad D., et al.
Publicado: (2018)

Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital
por: Alhasan, Khalid A., et al.
Publicado: (2022)

Prevalence of epilepsy in Saudi pregnant women and possible effects of anti-epileptic drugs on pregnancy outcomes
por: AlSheikh, Mona H.
Publicado: (2020)

Vitamin D supplementation to prevent vitamin D deficiency for children with epilepsy: Randomized pragmatic trial protocol
por: Khalifah, Reem Al, et al.
Publicado: (2018)

The impact of vitamin D food fortification and health outcomes in children: a systematic review and meta-regression
por: Al Khalifah, Reem, et al.
Publicado: (2020)

Color stability of Lucirin-photo-activated resin composite after immersion in different staining solutions: a spectrophotometric study
por: AlSheikh, Rasha
Publicado: (2019)

Relationship Between Peripheral Arterial Diseases and Obstructive Sleep Apnea: A Systematic Review
por: AlSheikh, Sultan
Publicado: (2023)

Renal artery aneurysm induced by neurofibromatosis type 1: A case report and review of the endovascular interventions for this rare vasculopathy
por: AlSheikh, Sultan
Publicado: (2023)

Prevalence and Related Risk Factors of Vitamin D Deficiency in Saudi Children with Epilepsy
por: Al Khalifah, Reem, et al.
Publicado: (2022)

Teledentistry awareness among dental professionals in Saudi Arabia
por: Al-Khalifa, Khalifa S., et al.
Publicado: (2020)

Effects of Iron Deficiency and Its Indicators on Lymphocyte Subsets: A Study at King Fahd Hospital of the University, Saudi Arabia
por: AlRajeh, Lolwa, et al.
Publicado: (2022)

Identifying menarcheal age and its association with body mass index in young Saudi females
por: Rafique, Nazish, et al.
Publicado: (2019)

Invasive sino-orbital aspergillosis with brain invasion in an immunocompetent pregnant patient
por: Alsulaiman, Hamad M., et al.
Publicado: (2021)

Spontaneous knee dislocation: a rare and dreadful complication of septic arthritis
por: Alshahir, Alwaleed Abdullah, et al.
Publicado: (2023)

Factors affecting the transfer of training to the workplace after a faculty development programme: What do trainers think?
por: Iqbal, Muhammad Z., et al.
Publicado: (2018)

Application of Er,Cr:YSGG laser versus photopolymerization after silver diamine fluoride in primary teeth
por: Hassan, Mohamed, et al.
Publicado: (2021)

Effect of eucalyptus oil on Streptococcus mutans and Enterococcus faecalis growth
por: Balhaddad, Abdulrahman A., et al.
Publicado: (2023)

Correction: Effect of eucalyptus oil on Streptococcus mutans and Enterococcus faecalis growth
por: Balhaddad, Abdulrahman A., et al.
Publicado: (2023)

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
por: Ali Alghamdi, Malak, et al.
Publicado: (2022)

Recurrence Pattern and Complication Rate of Allergic Fungal Sinusitis: A 10-Year Tertiary Center Experience
por: Alghonaim, Yazeed, et al.
Publicado: (2020)

Obsessive-Compulsive Disorder With Rheumatological and Inflammatory Diseases: A Systematic Review
por: Alsheikh, Ahmed M, et al.
Publicado: (2021)

Risk of Myocardial Infarction in HIV Patients: A Systematic Review
por: Alsheikh, Maram M, et al.
Publicado: (2022)

Quercetin Nanoemulsion Ameliorates Neuronal Dysfunction in Experimental Alzheimer’s Disease Model
por: Alaqeel, Nouf K., et al.
Publicado: (2022)

Scleral buckle induce orbital cellulitis and scleritis – A case report and literature review
por: Alanazi, Reem, et al.
Publicado: (2019)

Caregivers' Perception about the Relationship between Oral Health and Overall Health in Individuals with Disability in Qatif, Saudi Arabia: A Cross-Sectional Study
por: Alalshaikh, Marwa, et al.
Publicado: (2022)

Developing and Mapping Entrustable Professional Activities with Saudi Meds Competency Framework: A Consensus Study
por: Hmoud AlSheikh, Mona, et al.
Publicado: (2022)

Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings
por: Alsheikh, Shahad, et al.
Publicado: (2022)

The effect of smoking on cognition as measured by Cambridge Neuropsychological Test Automated Battery (CATNAB) and brain-derived neurotrophic factor plasma levels
por: Al-Mshari, Arwa Ali S., et al.
Publicado: (2020)

Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia
por: Bashiri, Fahad A., et al.
Publicado: (2020)

The Validity of the American Diabetes Association’s Diabetes Risk Test in a Saudi Arabian Population
por: Aldayel, Faisal A, et al.
Publicado: (2021)

Anterior myocardial infarction complicating right ventricle septal pacing
por: Alsheikh, Thabet
Publicado: (2021)

Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene
por: Alosaimi, Mohammed F., et al.
Publicado: (2023)

Appraisal of clinical practice guidelines for the management of attention deficit hyperactivity disorder (ADHD) using the AGREE II Instrument: A systematic review
por: Amer, Yasser Sami, et al.
Publicado: (2019)

Pediatric intracranial hypertension: Experience from 2 Tertiary Centers
por: Bashiri, Fahad A., et al.
Publicado: (2019)

Mandibular residual ridge height in relation to age, gender and duration of edentulism in a Saudi population: A clinical and radiographic study
por: AlSheikh, Hana Al, et al.
Publicado: (2019)

Gastroduodenal Artery Pseudoaneurysm Rupture Post-Billroth II Surgery: Case Report
por: Awada, Zeinab, et al.
Publicado: (2019)

Effects of Zamzam water on glycemic status, lipid profile, redox homeostasis, and body composition in rats
por: AlJuwaie, Ghadeer F., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_cdk1u97qkjheb8dapbsl9geffm