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Brain Magnetic Resonance Imaging Findings in Infantile Spasms

Neurology international, 2022-03, Vol.14 (1), p.261-270

Muthaffar, Osama Y

2022

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Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia

PloS one, 2024-07, Vol.19 (7), p.e0307454

2024

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Short-term effectiveness and side effects of ketogenic diet for drug-resistant epilepsy in children with genetic epilepsy syndromes

Frontiers in neurology, 2024-09, Vol.15, p.1484752

2024

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Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

Genes & Genomics, 2024, 46(4), , pp.475-487

2024

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Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families

Frontiers in pediatrics, 2022-02, Vol.9, p.829251

2022

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The flow pattern of neuro-pediatric emergency visits during COVID-19 pandemic

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2024-09, Vol.60 (1), p.103, Article 103

2024

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Parkinsonism‐dystonia‐2: Case‐series study from Saudi Arabia

Annals of clinical and translational neurology, 2024-04, Vol.11 (4), p.1063-1066

2024

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Insight into Genetic Mutations of SZT2: Is It a Syndrome?

Biomedicines, 2023-08, Vol.11 (9), p.2402

2023

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Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease

Frontiers in pediatrics, 2022-05, Vol.10, p.862722

2022

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Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic

Frontiers in pediatrics, 2021-02, Vol.9, p.629549-629549

2021

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Treatment of epileptic drop attacks (atonic seizures) not only depends on skills, but also etiology, tolerability, and EEG

Neurosciences, 2023-10, Vol.28 (4), p.281-282

2023

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Treating epilepsy with options other than antiepileptic medications

Neurosciences, 2020-08, Vol.25 (4), p.253-261

Muthaffar, Osama Y

2020

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Epilepsia partialis continua: A review

Neurosciences, 2024-04, Vol.29 (2), p.71-76

2024

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Parental perceptions of dental health in children with neurological disorders: Cross-sectional tertiary care center assessment

Saudi Journal of Oral Sciences, 2022-09, Vol.9 (3), p.146-150

2022

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Prevalence of Seizures in Children Diagnosed With Neurodevelopmental Disorders

Curēus (Palo Alto, CA), 2024-07

2024

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Diagnosis and management of infantile epileptic spasms syndrome (IESS) in Gulf Cooperation Council (GCC) countries: Expert consensus statement

Seizure (London, England), 2024-04, Vol.117, p.174-182

2024

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Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations

Curēus (Palo Alto, CA), 2024-02

2024

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Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families

Saudi journal of biological sciences, 2022-07, Vol.29 (7), p.103309-103309, Article 103309

2022

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A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report

Frontiers in pediatrics, 2023-11, Vol.11

2023

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The Therapeutic Role of Perampanel in Treating Pediatric Patients With Dravet Syndrome: A Scoping Review

Curēus (Palo Alto, CA), 2024-07

2024

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Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome

Translational pediatrics, 2024-04, Vol.13 (4), p.584-595

2024

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Valproic acid for children below 2 years of age with epilepsy

Neurosciences, 2021-10, Vol.26 (4), p.357-365

2021

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Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review

Curēus (Palo Alto, CA), 2024-04

2024

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Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase

The journal of microscopy & ultrastructure, 2024-04, Vol.12 (2), p.81-90

2024

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GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management

Child neurology open, 2023-01, Vol.10, p.2329048X231215630

2023

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Brain Magnetic Resonance Imaging Findings in Infantile Spasms

Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia

Short-term effectiveness and side effects of ketogenic diet for drug-resistant epilepsy in children with genetic epilepsy syndromes

Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families

The flow pattern of neuro-pediatric emergency visits during COVID-19 pandemic

Parkinsonism‐dystonia‐2: Case‐series study from Saudi Arabia

Insight into Genetic Mutations of SZT2: Is It a Syndrome?

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease

Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic

Treatment of epileptic drop attacks (atonic seizures) not only depends on skills, but also etiology, tolerability, and EEG

Treating epilepsy with options other than antiepileptic medications

Epilepsia partialis continua: A review

Parental perceptions of dental health in children with neurological disorders: Cross-sectional tertiary care center assessment

Prevalence of Seizures in Children Diagnosed With Neurodevelopmental Disorders

Diagnosis and management of infantile epileptic spasms syndrome (IESS) in Gulf Cooperation Council (GCC) countries: Expert consensus statement

Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations

Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report

The Therapeutic Role of Perampanel in Treating Pediatric Patients With Dravet Syndrome: A Scoping Review

Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome

Valproic acid for children below 2 years of age with epilepsy

Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review

Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase

GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management

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