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Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.
Published in:
Pakistan Journal of Medical Sciences, 2024, v. 40, n. 10, p. 2243, doi. 10.12669/pjms.40.10.10474
By:
- Bagabir, Hala Abubaker;
- Abdulkareem, Angham Abdulrhman;
- Muthaffar, Osama Yousef;
- Shirah, Bader H.;
- Naseer, Muhammad Imran
Publication type:
Article
Change in presurgical diagnostic imaging evaluation affects subsequent pediatric epilepsy surgery outcome.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 1, p. 32, doi. 10.1111/epi.13229
By:
- Rubinger, Luc;
- Chan, Carol;
- D'Arco, Felice;
- Moineddin, Rahim;
- Muthaffar, Osama;
- Rutka, James T.;
- Snead, O. Carter;
- Smith, Mary Lou;
- Widjaja, Elysa
Publication type:
Article
GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management.
Published in:
Child Neurology Open, 2023, p. 1, doi. 10.1177/2329048X231215630
By:
- Almaghrabi, Majdah A.;
- Muthaffar, Osama Y.;
- Alahmadi, Sereen A.;
- Abdulsbhan, Mashael A.;
- Bamusa, Mashael;
- Aljezani, Maram Ahmed;
- Bahowarth, Sarah Y.;
- Alyazidi, Anas S.;
- Aggad, Waheeb S.
Publication type:
Article
Short-term effectiveness and side effects of ketogenic diet for drug-resistant epilepsy in children with genetic epilepsy syndromes.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1484752
By:
- Muthaffar, Osama Y.;
- Alyazidi, Anas S.;
- Alsowat, Daad;
- Alasiri, Abdulaziz A.;
- Albaradie, Raidah;
- Jad, Lamyaa A.;
- Kayyali, Husam;
- Jan, Mohammed M. S.;
- Bamaga, Ahmed K.;
- Alsubaie, Mohammed A.;
- Daghistani, Rawan;
- Baeesa, Saleh S.;
- Alaifan, Meshari A.;
- Makraz, Abdelhakim;
- Alsharief, Abrar N.;
- Naseer, Muhammad Imran
Publication type:
Article
Etiologies and Seizure Outcome of Neonatal Seizures: A Tertiary University Hospital Experience.
Published in:
Journal of Clinical Neonatology, 2024, v. 13, n. 2, p. 42, doi. 10.4103/jcn.jcn_8_24
By:
- Muthaffar, Osama Y.;
- Aldail, Abdullah A.;
- Khojah, Imad M.;
- Alyazidi, Anas S.;
- Alotibi, Taif K.;
- Makki, Lama T.
Publication type:
Article
The efficacy of non-fasting ketogenic diet protocol in the management of intractable epilepsy in pediatric patients: a single center study from Saudi Arabia.
Published in:
Journal of International Medical Research, 2022, v. 50, n. 3, p. 1, doi. 10.1177/03000605221081714
By:
- Alameen Ali, Hayat;
- Muthaffar, Osama;
- AlKarim, Nahla;
- Kayyali, Husam;
- Elmardenly, Ahmed;
- Tamim, Abdullah;
- Alansari, Hala
Publication type:
Article
Efficacy and Safety of Perampanel in Children with Drug-Resistant Focal-Onset Seizures: A Retrospective Review.
Published in:
Children, 2023, v. 10, n. 6, p. 1071, doi. 10.3390/children10061071
By:
- Elmardenly, Ahmed;
- Aljehani, Zekra;
- Tamim, Abdullah;
- Alyazidi, Anas;
- Muthaffar, Osama
Publication type:
Article
Parkinsonism‐dystonia‐2: Case‐series study from Saudi Arabia.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 1063, doi. 10.1002/acn3.52020
By:
- Almuqbil, Mohammed A.;
- Tabassum, Sadia;
- Muthaffar, Osama Y.;
- Ghamdi, Fouad;
- Al Masseri, Zainab;
- Alsaman, Abdulaziz;
- Alkhater, Reem A.
Publication type:
Article
Parental perceptions of dental health in children with neurological disorders: Cross-sectional tertiary care center assessment.
Published in:
Saudi Journal of Oral Sciences, 2022, v. 9, n. 3, p. 146, doi. 10.4103/sjoralsci.sjoralsci_36_22
By:
- Alyazid, Anas S.;
- Muthaffar, Sara Y.;
- Muthaffar, Arwa Y.;
- Muthaffar, Osama Y.;
- Gaddoury, Mahmoud A.
Publication type:
Article
Neuro-pediatric emergencies: clinical profile and outcomes.
Published in:
Journal of Medicine & Life, 2024, v. 17, n. 4, p. 432, doi. 10.25122/jml-2023-0476
By:
- Khojah, Imad;
- Muthaffar, Osama;
- Alalawi, Hassan;
- Alyazidi, Anas;
- Alghamdi, Maha;
- Alharbi, Ohud;
- Almuharib, Latifa;
- Salem, Mayar
Publication type:
Article
MED23 pathogenic variant: genomic-phenotypic analysis.
Published in:
Journal of Medicine & Life, 2024, v. 17, n. 5, p. 500, doi. 10.25122/jml-2024-0065
By:
- Bamaga, Ahmed;
- Muthaffar, Osama;
- Alyazidi, Anas;
- Bahowarth, Sarah;
- Shawli, Mohammed;
- Alotibi, Fahad;
- Alsehemi, Matar;
- Almohammal, Mohammad;
- Alawwadh, Adel;
- Alghamdi, Njood
Publication type:
Article
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Published in:
Biomedicines, 2023, v. 11, n. 9, p. 2402, doi. 10.3390/biomedicines11092402
By:
- Muthaffar, Osama Y.;
- Jan, Mohammed M. S.;
- Alyazidi, Anas S.;
- Alotibi, Taif K.;
- Alsulami, Eman A.
Publication type:
Article
Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Published in:
Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1185065
By:
- Abdulkareem, Angham Abdulrhman;
- Zaman, Qaiser;
- Khan, Hamza;
- Khan, Sabar;
- Rehman, Gauhar;
- Tariq, Nabeel;
- Ahmad, Mashal;
- Owais, Muhammad;
- Najumuddin;
- Muthaffar, Osama Yousef;
- Bibi, Fehmida;
- Rin Khang;
- Seung Woo Ryu;
- Naseer, Muhammad Imran;
- Jelani, Musharraf
Publication type:
Article
A CROSS-SECTIONAL STUDY TO EVALUATE THE QUALITY OF LIFE OF CAREGIVERS FOR CHILDREN WITH CEREBRAL PALSY.
Published in:
Pharmacophore, 2021, v. 12, n. 5, p. 69, doi. 10.51847/umXB9OSg54
By:
- Aman, Alanoud Akram;
- Baharoon, Bashaer;
- Idrees, Haifa Jamal;
- Taj, Ahad Mohammedyusuf;
- Alzahrani, Bassmah Ali;
- Muthaffar, Osama Yousef
Publication type:
Article
Epilepsia partialis continua: A review.
Published in:
Neurosciences, 2024, v. 29, n. 2, p. 71, doi. 10.17712/nsj.2024.2.20230074
By:
- Muthaffar, Osama Y.;
- Alyazidi, Anas S.
Publication type:
Article
Treatment of epileptic drop attacks (atonic seizures) not only depends on skills, but also etiology, tolerability, and EEG.
Published in:
Neurosciences, 2023, v. 28, n. 4, p. 281, doi. 10.17712/nsj.2023.4.20230066
By:
- Mehri, Sounira;
- Finsterer, Josef;
- Muthaffar, Osama Y.
Publication type:
Article
Treatment of drop attacks: Anti-seizure drug choices of pediatric neurologists in Saudi Arabia.
Published in:
Neurosciences, 2023, v. 28, n. 3, p. 170, doi. 10.17712/nsj.2023.3.20230008
By:
- Alhiniah, Mudhawi;
- Alshahrani, Asma;
- Rajab, Renad;
- Alelyani, Rakan;
- Badawi, Atheer;
- Abbar, Abrar;
- Abdulsbhan, Mashael;
- Alrajhi, Amir;
- Muthaffar, Osama;
- Jan, Mohammed
Publication type:
Article
Valproic acid for children below 2 years of age with epilepsy.
Published in:
Neurosciences, 2021, v. 26, n. 4, p. 357, doi. 10.17712/nsj.2021.4.20210075
By:
- Muthaffar, Osama Y.;
- Almahmudi, Salha M.;
- Alrabghi, Muna O.;
- Bin Mahfouz, Maria M.;
- Alfawaz, Nuha S.
Publication type:
Article
Treating epilepsy with options other than antiepileptic medications.
Published in:
Neurosciences, 2020, v. 25, n. 4, p. 253, doi. 10.17712/nsj.2020.4.20200010
By:
- Muthaffar, Osama Y.
Publication type:
Article
Saudi Epilepsy Society consensus on epilepsy management during the COVID-19 Pandemic.
Published in:
Neurosciences, 2020, v. 25, n. 3, p. 222, doi. 10.17712/nsj.2020.3.20200066
By:
- Alotaibi, Faisal;
- Althani, Ziyad;
- Aljaafari, Danah;
- Tayeb, Haythum O.;
- Baarmah, Duaa;
- Aljalal, Norah;
- Muthaffar, Osama;
- Alqulaiti, Khalid;
- Alhameed, Majed;
- Ali, Baleegh;
- Qureshi, Shireen;
- Albaradie, Raidah
Publication type:
Article
Treatment of infantile spasms in Saudi Arabia.
Published in:
2018
By:
- Alqassas, Maryam A.;
- Muthaffar, Osama Y.;
- Aljawi, Anan A.;
- Taj, Ahad M.;
- Nijaifan, Haya K.;
- Alyoubi, Reem A.;
- Jan, Mohammed M.
Publication type:
Abstract
A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.
Published in:
Genes, 2023, v. 14, n. 2, p. 510, doi. 10.3390/genes14020510
By:
- Bakar, Abu;
- Shams, Sulaiman;
- Bibi, Nousheen;
- Ullah, Asmat;
- Ahmad, Wasim;
- Jelani, Musharraf;
- Muthaffar, Osama Yousef;
- Abdulkareem, Angham Abdulrhman;
- Abujamel, Turki S.;
- Haque, Absarul;
- Naseer, Muhammad Imran;
- Khan, Bushra
Publication type:
Article
Novel Variants in MPV17, PRX, GJB1 , and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases.
Published in:
Genes, 2023, v. 14, n. 2, p. 328, doi. 10.3390/genes14020328
By:
- Zaman, Qaiser;
- Khan, Muhammad Abbas;
- Sahar, Kalsoom;
- Rehman, Gauhar;
- Khan, Hamza;
- Rehman, Mehwish;
- Najumuddin;
- Ahmad, Ilyas;
- Tariq, Muhmmad;
- Muthaffar, Osama Yousef;
- Abdulkareem, Angham Abdulrhman;
- Bibi, Fehmida;
- Naseer, Muhammad Imran;
- Faisal, Muhammad Shah;
- Wasif, Naveed;
- Jelani, Musharraf
Publication type:
Article
Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Published in:
Genes, 2023, v. 14, n. 1, p. 145, doi. 10.3390/genes14010145
By:
- Zaman, Qaiser;
- Sadeeda;
- Anas, Muhammad;
- Rehman, Gauhar;
- Khan, Qadeem;
- Iftikhar, Aiman;
- Ahmad, Mashal;
- Owais, Muhammad;
- Ahmad, Ilyas;
- Muthaffar, Osama Yousef;
- Abdulkareem, Angham Abdulrhman;
- Bibi, Fehmida;
- Jelani, Musharraf;
- Naseer, Muhammad Imran
Publication type:
Article
Brain Magnetic Resonance Imaging Findings in Infantile Spasms.
Published in:
Neurology International, 2022, v. 14, n. 1, p. 261, doi. 10.3390/neurolint14010021
By:
- Muthaffar, Osama Y.
Publication type:
Article
The flow pattern of neuro-pediatric emergency visits during COVID-19 pandemic.
Published in:
Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2024, v. 60, n. 1, p. 1, doi. 10.1186/s41983-024-00878-w
By:
- Khojah, Imad M.;
- Muthaffar, Osama Y.;
- Alyazidi, Anas S.;
- Alghamdi, Maha K.;
- Salem, Mayar M.;
- Alalawi, Hassan A.;
- Alharbi, Ohud T.;
- Almuharib, Latifa A.
Publication type:
Article

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