Division of Pediatric Neurology

The Pediatric Department at King Abdullah Specialized Children's Hospital, King Abdelaziz Medical City in Riyadh, Saudi Arabia, has a division for pediatric neurology. Children with neurological disorders can get tertiary care in this division. Also, residents, interns, and medical students are taught by and supervised by the faculty. Aside from that, they are also involved in research and writing for academic purposes. They also work in administrative positions at King Abdelaziz Medical City and King Saud Ibn Abdelaziz University and Health Sciences.

Mission of Pediatric Neurology

Since more than 20 years ago, the division has given children with neurological disorders who come to King Abdelaziz Medical City a unique type of tertiary clinical care. This has been done with the help of skilled doctors in pediatric neurology and a well-supported clinical setting. Residents in pediatric neurology are trained by the division as part of the residency program. Also, the division is involved in teaching and supervising other residents, interns, and medical students.

Vision of Pediatric Neurology

Our goal is to have a patient-centered service that uses the most advanced evidence-based practices and therapies to treat children with neurological disorders. Helping these patients to be as healthy and independent as possible and reach their full potential.

Objectives of Pediatric Neurology

Pediatric Neurology Programs

1. The ketogenic diet for intractable epilepsy is a program for treating patients with refractory epilepsy who did not respond to medical therapy and are not candidates for corrective resective epilepsy surgery.
2. Intrathecal Nusinersen therapy for Spinal Muscular Atrophy: This program functions like other kingdom programs for the same purpose with coordination with the Ministry of Health and locally collaboration with invasive pediatric radiology and pediatric anesthesia services.
3. Neurogenetic program: a specialized service that deals with children and adults with neurogenetic disorders by utilizing specialized diagnostic tools and applying precision-oriented therapies. In addition to delivering proper genetic counseling.
4. Hormonal therapy with intravenous Synthetic ACTH for infantile spasms: this is a program for the treatment of this severe epilepsy syndrome utilizing the intravenous synthetic ACTH
5. Advanced therapies of autoimmune encephalitis in collaboration with Pediatric rheumatology, Pediatric anesthesia, and Pediatric oncology services.

Education and training in Pediatric Neurology

The Solo Pediatric Neurology Residency Program has been recognized by the SCFHS. As part of the Residency Program Training, educational activities twice a week, including basic neuroscience, clinical lectures, teaching at the bedside, journal clubs, and grand rounds. These activities are done by everyone on the team, including interns, residents, consultants, and guest speakers.

Pediatric Neurology Division Published Research

1. Alrifai MT, Al Naji F, Alamir A, Russell N. Pseudotumor cerebri in a child receiving peritoneal dialysis: Recovery of vision after lumbo-pleural shunt. Ann Saudi Med. 2011 Sep-Oct;31(5):539-41.
2. MT AL-Rifai, RC Woody: Marriage patterns and pediatric neurologic disease in Damascus , Syria. Pak J Neurol Sci 2007;2(3):136-144. 3) Aljarrallah A, Al-Rifai MT, Roach ES: Non-traumatic Intracerebral Hemorrhage in pediatric patients. J Child Neurology 01-May-2000. 15(5): 284-9
3. Aljarrallah A, Al-Rifai MT, Roach ES: Non-traumatic Intracerebral Hemorrhage in pediatric patients. J Child Neurology 01-May-2000. 15(5): 284-9
4. Iqbal Y, Abdullah M, Omari A, Sudeeri R , Al-Rifai MT: spinal cord compression as a presentation of acute lymphblastic leukemia. Annals of Saudi Medicine, May 2003. vol 23: 179-180.
5. WM Eyaid, MS Rashed, Muhammad T. Al-Rifai: An Inbon Error of Metabolism presenting as Hypoxic-Ischemic Insult. Pediatr Neurol. 2005 Feb;32(2):134-6.
6. Alrifai MT, Al Naji F, Alamir A, Russell N. Pseudotumor cerebri in a child receiving peritoneal dialysis: Recovery of vision after lumbo-pleural shunt. Ann Saudi Med. 2011 Sep-Oct;31(5):539-41.
7. Al Tawil KI, El Mahdy HS, Al Rifai MT, Tamim HM, Ahmed IA, Al Saif SA. Risk factors for isolated periventricular leukomalacia. Pediatr Neurol. 2012 Mar;46(3):149-53
8. Majid Alfadhel, Makki Almuntashri, Raafat H Jadah, Fahad A Bashiri, Muhammad Talal Al Rifai, Hisham Al Shalaan, Mohammed Al Balwi, Ahmed Al Rumayan, Wafaa Eyaid and Waleed Al-Twaijri Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet Journal of Rare Diseases, 8:83 (06 Jun 2013)
9. Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, MartinezBarbera JP, Sowden JC, Dattani MT. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain. 2013 Oct;136(Pt 10):3096-105.
10. Alrifai MT, AlShaya MA, Abulaban A, Alfadhel M. Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center. Pediatr Neurol. 2014 Sep;51(3):390-7
11. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism‏M Alfadhel, MT Alrifai, D Trujillano, H Alshaalan, A Al Othaim, JIMD Rep. 2015;22:11-6
12. The Neurological Outcome of Isolated PVL and Severe IVH in Preterm Infants: Is It Fair to Compare? Al Rifai MT, Al Tawil KI. Pediatr Neurol. 2015 Nov;53(5):427-33
13. Worsening of Seizures after Asparagine Supplementation in a Case of Asparagine Synthetase Deficiency. Muhammad Talal Alrifai; Majid Alfadhel. Pediatr Neurol. 2016 May; (58): 98-100
14. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA. Hum Genet. 2016 Nov;135(11):1263-1268.
15. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R.Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146
16. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Alfares A, Alfadhel M, Wani T, Alsahli S, Alluhaydan I, Al Mutairi F, Alothaim A, Albalwi M, Al Subaie L, Alturki S, Al-Twaijri W, Alrifai M, Al-Rumayya A, Alameer S, Faqeeh E, Alasmari A, Alsamman A, Tashkandia S, Alghamdi A, Alhashem A, Tabarki B, AlShahwan S, Hundallah K, Wali S, Al-Hebbi H, Babiker A, Mohamed S, Eyaid W, Zada AAP. Mol Genet Metab. 2017 Jun;121(2):91-95.
17. X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report. Malik A, Amer AB, Salama M, Haddad B, Alrifai MT, Balwi MA, Davies W, Eyaid W. J Med Case Rep. 2017 Sep 22;11(1):267. doi: 10.1186/s13256-017-1420-2.
18. Retrospective review of pediatric status epilepticus in 116 Saudi patients: predictors of outcome. Hommady RH, Alrifai MT, Mubayrik OK, Alayed RS, Alsemari MA, Arumayyan A, Altuwaijri W, Baarmah D. Ann Saudi Med. 2017 Nov-Dec;37(6):455-460.
19. Alsahli S, Alrifai MT, Al Tala S, Mutairi FA, Alfadhel M. Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. J Cent Nerv Syst Dis. 2018 Feb 28;10:1179573518759682
20. Abdullah Ayidh Almutairi., Muhammad Talal Alrifai, Maram Saleh Alturki, Qais Saad Alrashidi and Mohamed Mohamed Salama. “Psychosocial Problems in Children with Idiopathic Epilepsy". EC Neurology 10.2 (2018): 91-97.
21. Afnan AlGhamdi, Muhammad Talal Alrifai, Fuad Al Mutairi, Abdulrahman Alswaid, Wafaa Eyaid, Majid Alfadhel. Epilepsy in propionic acidemia: case series of fourteen Saudi patients J Child Neurol. 2018 Jan 1:883073818786157. doi: 10.1177/0883073818786157. [Epub ahead of print]
22. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N. Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16
23. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. AlRakan MA, Abothnain MD, Alrifai MT, Alfadhel M. BMC Ophthalmol. 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. Review.
24. Clinical Presentation and outcome of acute disseminated encephalomyelitis in Saudi Arabia. Tertiary Center Experience. Aldamkh BA, Alamer AF, Altuwaijri MM, Alrumayyan MA, Alhaqbani AH, Alharthi NA, Aldamkh SA, Aldrees AS, Alrifai MT, Altuwaijri W, Alrumayyan A. Neurosciences (Riyadh). 2019 Apr;24(2):89-94.
25. Prevalence and outcomes of Guillain-Barré syndrome among pediatrics in Saudi Arabia: a 10-year retrospective study. Asiri S, Altwaijri WA, BaArmah D, Al Rumayyan A, Alrifai MT, Salam M, Almutairi AF. Neuropsychiatr Dis Treat. 2019 Mar 1;15:627-635.
26. Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening. Alfadhel M, Umair M, Almuzzaini B, Alsaif S, AlMohaimeed SA, Almashary MA, Alharbi W, Alayyar L, Alasiri A, Ballow M, AlAbdulrahman A, Alaujan M, Nashabat M, Al-Odaib A, Altwaijri W, Al-Rumayyan A, Alrifai MT, Alfares A, AlBalwi M, Tabarki B. Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26.
27. The comorbidity of headaches in pediatric epilepsy patients: How common and what types? Al-Gethami H, Alrifai MT, AlRumayyan A, AlTuwaijri W, Baarmah D. Neurosciences (Riyadh). 2019 Oct;24(4):284-289. doi: 10.17712/nsj.2019.4.20190043.
28. Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics. Alsubaie L, Aloraini T, Amoudi M, Swaid A, Eyiad W, Al Mutairi F, Ababneh F, Alrifai MT, Baarmah D, Altwaijri W, Alotaibi N, Harthi A, Rumayyan A, Alanazi A, Qrimli M, Alfadhel M, Alfares A.Ann Hum Genet. 2020 Jun 13. doi: 10.1111/ahg.12397. Online ahead of print
29. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M.Clin Genet. 2020 Sep 1. doi: 10.1111/cge.13842. Online ahead of print.
30. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy. Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z.Hum Genet. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3.
31. Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia. Fahad A. Bashiri1*, Sultan Al Johani1, Muddathir H. Hamad1, Amal Y. Kentab1, Ali H. Alwadei2, Khalid Hundallah3, Hamdi H. Hasan4, Walaa Alshuaibi5, Lamyaa Jad2, Muhammad Talal Alrifai6, Abrar Hudairi1, Rana Al Sheikh1, Asma'a Alenizi3, Nawaf A. Alharthi7, Tayseer A. Abdelmagid8, Duaa Ba-Armah6, Mustafa A. Salih1 and Brahim Tabarki. Front. Pediatr., 09 October 2020 | https://doi.org/10.3389/fped.2020.00526
32. The Leukodystrophy Spectrum in Saudi Arabia: epidemiological, Clinical, Radiological and genetic data. Alfadhel M, Almuqbil M, Al Mutairi F, Umair M, Almannai M, Alghamdi M, Althiyab H, Albarakati R, Bashiri FA, Alshuaibi W, Ba-Armah D, Saleh MA, Al-Asmari A, Faqeih E, Altuwaijri W, Al-Rumayyan A, Balwi MA, Ababneh F, Alswaid AF, Eyaid WM, Almontashiri NAM, Alhashem A, Hundallah K, Bertoli-Avella A, Bauer P, Beetz C, Alrifai MT, Alfares A, Tabarki B. Front Pediatr. 2021 May 13;9:633385. doi: 10.3389/fped.2021.633385. eCollection 2021.
33. Medical professionalism frameworks across non-Western cultures: A narrative overview. Al-Rumayyan A, Van Mook WNKA, Magzoub ME, Al-Eraky MM, Ferwana M, Khan MA, Dolmans D.Med Teach. 2017 Apr;39(sup1):S8-S14. doi: 10.1080/0142159X.2016.1254740. Epub 2017 Mar 5.
34. Utilization of Complementary Medicine by Pediatric Neurology Patients and Their Families in Saudi Arabia. Al-Rumayyan A, Alqarni H, Almanna BS, Althonayan N, Alhalafi M, Alomary N. Cureus. 2020 May 4;12(5):e7960. doi: 10.7759/cureus.7960.
35. Early-Onset Parkinsonism: Case Report and Review of the Literature. Al-Rumayyan A, Klein C, Alfadhel M. Pediatr Neurol. 2017 Feb;67:102-106.e1. doi: 10.1016/j.pediatrneurol.2015.06.005. Epub 2015 Oct 23.
36. Teaching clinical reasoning through hypothetico-deduction is (slightly) better than self-explanation in tutorial groups: An experimental study. Al Rumayyan A, Ahmed N, Al Subait R, Al Ghamdi G, Mohammed Mahzari M, Awad Mohamed T, Rotgans JI, Donmez M, Mamede S, Schmidt HG. Perspect Med Educ. 2018 Apr;7(2):93-99. doi: 10.1007/s40037-018-0409-x.
37. 37) Prevalence and prediction of abnormal CT scan in pediatric patients presenting with a first seizure.Al-Rumayyan AR, Abolfotouh MA. Neurosciences (Riyadh). 2012 Oct;17(4):352-6.
38. Shared clinical decision making. A Saudi Arabian perspective. AlHaqwi AI, AlDrees TM, AlRumayyan A, AlFarhan AI, Alotaibi SS, AlKhashan HI, Badri M. Saudi Med J. 2015 Dec;36(12):1472-6. doi: 10.15537/smj.2015.12.13682.
39. Patient's Desire and Preference for Provision of Information Toward Greater Involvement in Shared Care. AlHaqwi AI, AlDrees TM, AlRumayyan AR, AlFarhan AI, Badri M. Saudi J Med Med Sci. 2016 Sep-Dec;4(3):172-177. doi: 10.4103/1658-631X.188266. Epub 2016 Aug 11.
40. Reply from author. Al-Rumayyan AR. Neurosciences (Riyadh). 2014 Oct;19(4):339-40.
41. High school versus graduate entry in a Saudi medical school - is there any difference in academic performance and professionalism lapses? Al Rumayyan AR, Al Zahrani AA, Hameed TK. BMC Med Educ. 2016 Dec 19;16(1):315. doi: 10.1186/s12909-016-0834-7.
42. Cerebral sinus venous thrombosis in a child with nephrotic syndrome. Al-Rumayyan AR. Neurosciences (Riyadh). 2014 Apr;19(2):127-9.
43. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA. Nat Genet. 2004 Sep;36(9):1008-13. doi: 10.1038/ng1419. Epub 2004 Aug 22.
44. PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review. Alfadhel M, Nashabat M, Hundallah K, Al Hashem A, Alrumayyan A, Tabarki B. Child Neurol Open. 2018 Jan 1;5:2329048X17752237. doi: 10.1177/2329048X17752237. eCollection 2018.
45. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients. Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS.
46. Pediatric intracranial hypertension. Experience from 2 Tertiary Centers. Bashiri FA, Al Abdulsalam HK, Hassan SM, Al Twaijri WA, Almalki FI, Kentab AY, Hamad MH, Alwadei AH, Al-Showaeir DA, Altweijri IS, Aldabjan HM, Aldegether MS, Albakr AA, Alhothali WM, Ajlan AM, Hassan HH, Salih MA. Neurosciences (Riyadh). 2019 Oct;24(4):257-263. doi: 10.17712/nsj.2019.4.20190052.
47. Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy. Alsahli S, Al-Twaijri W, Al Mutairi F. Epilepsia Open. 2018 Nov 12;3(4):524-527. doi: 10.1002/epi4.12263. eCollection 2018 Dec.
48. KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome. Alsahli S, Arold ST, Alfares A, Alhaddad B, Al Balwi M, Kamsteeg EJ, Al-Twaijri W, Alfadhel M. Am J Med Genet A. 2018 Jul;176(7):1602-1609. doi: 10.1002/ajmg.a.38723. Epub 2018 May 7.
49. Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia. Bashiri FA, Hamad MH, Amer YS, Abouelkheir MM, Mohamed S, Kentab AY, Salih MA, Al Nasser MN, Al-Eyadhy AA, Al Othman MA, Al-Ahmadi T, Iqbal SM, Somily AM, Wahabi HA, Hundallah KJ, Alwadei AH, Albaradie RS, Al-Twaijri WA, Jan MM, Al-Otaibi F, Alnemri AM, Al-Ansary LA. Neurosciences (Riyadh). 2017 Apr;22(2):146-155. doi: 10.17712/nsj.2017.2.20170093.
50. Pediatric migraine equivalents: occurrence and clinical features in practice. Al-Twaijri WA, Shevell MI. Pediatr Neurol. 2002 May;26(5):365-8. doi: 10.1016/s0887-8994(01)00416-7.
51. A novel chronic childhood sensory predominant neuropathy. Al-Twaijri WA, Shevell MI.Pediatr Neurol. 2002 Jul;27(1):49-52. doi: 10.1016/s0887-8994(02)00376-4.
52. The landscape of early infantile epileptic encephalopathy in a consanguineous population. Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M. Seizure. 2019 Jul;69:154-172. doi: 10.1016/j.seizure.2019.04.018. Epub 2019 Apr 27.
53. Intravitreal Ranibizumab Injection for the Treatment of Retinopathy of Prematurity. Aldebasi T, Guma MA, Bashir R, Al Saif S, Altwaijri WA, Al Bekairy AM. Med Princ Pract. 2019;28(6):526-532. doi: 10.1159/000500310. Epub 2019 Apr 16.
54. Prospective study of early and late outcomes of extremely low birthweight in Central Saudi Arabia. Abolfotouh MA, Al Saif S, Altwaijri WA, Al Rowaily MA. BMC Pediatr. 2018 Aug 22;18(1):280. doi:10.1186/s12887-018-1248-y.
55. Quality of life in paediatrics with intractable epilepsy in a large paediatric university hospital in Riyadh, Saudi Arabia. Altwaijri WA, Yahya BJ, Alasmari LB, Alsultan RN, Alsuhaibani SM, Alsemih RM, Moukaddem AK. J Family Med Prim Care. 2020 Nov 30;9(11):5523-5536. doi:10.4103/jfmpc.jfmpc_1172_20. eCollection 2020 Nov.
56. Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic. Bamaga AK, Alghamdi F, Alshaikh N, Altwaijri W, Bashiri FA, Hundallah K, Abukhaled M, Muthaffar OY, Al-Mehmadi S, Jamaly TA, Al-Muhaizea MA, Al-Saman A. Front Pediatr. 2021 Feb 17;9:629549. doi: 10.3389/fped.2021.629549. eCollection 2021.
57. Adapting evidence-based clinical practice guidelines for people with attention deficit hyperactivity disorder in Saudi Arabia: process and outputs of a national initiative. Bashiri FA, Albatti TH, Hamad MH, Al-Joudi HF, Daghash HF, Al-Salehi SM, Varnham JL, Alhaidar F, Almodayfer O, Alhossein A, Aldhalaan H, Ad-Dab'bagh YA, Al Backer N, Altwaijri W, Alburikan K, Buraik MW, Ghaziuddin M, Nester MJ, Wahabi HA, Alhabib S, Jamal AA, Amer YS. Child Adolesc Psychiatry Ment Health. 2021 Feb 8;15(1):6. doi: 10.1186/s13034-020-00351-5.
58. Lama Aljomah, Sara Almedlej, Duaa Baarmah, Waleed Altwaijri, Ahmad Alrumayyan, Muhammad Talal Alrifai, Mohammed Almuqbil*, Mohammad Alshalaan. Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience. eNeurologicalSci, July 2021. https://doi.org/10.1016/j.ensci.2021.100355
59. Fatima Y. Ismail, Mohammed Almuqbil, Ali Fatemi. Chapter 24: Metabolic Movement Disorders in the Era of Next-Generation Sequencing; Ebrahimi-Fakhari, D., & Pearl, P., (Eds.). (2020). Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes. Cambridge: Cambridge University Press. doi:10.1017/9781108556767
60. Mohammed Almuqbil. Prevalence of Neurometabolic Diseases in Saudi Arabia. Journal of Biochemical and Clinical Genetics. Published. May 2020.http://dx.doi.org/10.24911/JBCGenetics/183-1585310179
61. Mohammed Almuqbil, Hilary J Vernon, Marcia Ferguson, Antonie D. Kline. PARS2-associated mitochondrial disease: a case report of a patient with prolonged survival and literature review. Molecular Genetics and Metabolism (MGM) Reports. Published. June 2020. 10.1016/j.ymgmr.2020.100613
62. Gerard T. Berry, M.D.; Elizabeth D Blume; Ann Wessel; Tajinder Singh; Leah Hecht; David J Harris; Didem Demirbas; Mohamed A Almuqbil. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. Journal of Inherited Metabolic Diseases (JIMD) Reports. Published. April 2020.https://doi.org/10.1002/jmd2.12119
63. Mohammed Almuqbil, Jasmine Knoll, Jeffrey M. Chinsky. Late Development of Hepatocellular Carcinoma in Tyrosinemia type 1 despite Nitisinone (NTBC) Treatment. Journal of Pediatric Gastroenterology and Nutrition. Published. March 2020. 10.1097/MPG.0000000000002698
64. Tomoyasu Higashimoto, DO, PhD, Alexander Y. Kim, MD, Jessica T. Ogawa, MD, Mohammed A. Almuqbil, MD, Irini Manoli MD, Charles P. Venditti, MD PhD, Meral Gunay-Aygun, MD, Tao Wang, MD, PhD. High-dose hydroxocobalamin injection achieves biochemical correction and clinical improvement in adult patients with late-onset cobalamin C disease. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. Journal of Inherited Metabolic Diseases (JIMD) Reports. Published. December-2019. https://doi.org/10.1002/jmd2.12087
65. Mohammed Almuqbil, Jeffrey M. Chinsky, Siddharth Srivastava. Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events without Encephalopathy. Child Neurology Open. Child Neurol Open. 2019 Sep 3;6:2329048X19873242. doi: 10.1177/2329048X19873242. eCollection 2019.
66. Mohamed A Almuqbil, Susan E Waisbren, Harvey L Levy, Jonathan D Picker. Revising the Psychiatric Phenotype of Homocystinuria. Genetics in Medicine Journal. 2019 Jan 15. doi: 10.1038/s41436-018-0419-4.
67. Almuqbil M, Vernon HJ. Leigh Syndrome. In: Roos RP, Editor-in-chief. MedLink Neurology. San Diego: MedLink Corporation. 2018. Available at www.medlink.com.
68. Mohamed Almuqbil, Michael J. Rivkin, Masanori Takeoka, Edward Yang, Lance H Rodan MD. Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. Eur J Paediatr Neurol. 2018 May;22(3):544-547. doi: 10.1016/j.ejpn.2018.02.005. Epub 2018 Feb 19.
69. Phillip L Pearl, Mohammed Almuqbil. Chapter 15: Genetic-Metabolic Disorders Presenting as Acute, but Reversible, Severe Epilepsies; Book: Acute Encephalopathy and Encephalitis in Infancy and its Related Disorders, 2017. Pages: 105-115.
70. Phillip L Pearl, Mohammed Almuqbil. Chapter 3: Treatable Inherited Metabolic Epilepsies: Diagnoses Not to Miss; Book: Inherited Metabolic Epilepsies 2nd Edition, 2017. Pages: 40-54.
71. Almuqbil M, Christina Go, Laura Nagy, Nisha Pai, Eva Mamak, Saadet Mahmutoglu. New paradigm for the treatment of glucose transporter 1 (GLUT1) deficiency syndrome: Glycosade® and low glycemic index diet. Journal of Pediatric Neurology, Volume 53, Number 3, September 2015, 243e246. 10.1016/j.pediatrneurol.2015.06.018
72. Almuqbil M., Srour M. Andersen-Tawil Syndrome. Case report and literature review. Neurology Journal: Child Neurology Section March 17, 2015 vol. 84 no. 11 e78-e80.
73. Almuqbil M., Hamdan F., Mathonnet G., Rosenblatt B., Srour M. De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability. European Journal of Medical Genetics 56 (2013) 686-688. 10.1016/j.ejmg.2013.10.003
    

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