MEDICAL SERVICES

Departments

Programs

Languages

  • English

EDUCATION

Medical School

  • American University of Beirut , 2008 , Riad El Solh , Beirut

Internship

  • Rainbow Babies & Children's Hospital , 2011 , Cleveland , OH

Residency

  • Boston Children's Hospital , 2014 , Boston , MA

Fellowship

  • Boston Children's Hospital , 2016 , Boston , MA

CERTIFICATIONS

  • American Board of Psychiatry and Neurology, Child and Adolescent Neurology
  • American Board of Psychiatry and Neurology, Epilepsy

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. View abstract
  2. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. View abstract
  3. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
  4. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia. 2020 02; 61(2):249-258. View abstract
  5. Clinical Reasoning: A 6-week-old infant with migrating focal seizures. Neurology. 2020 01 28; 94(4):178-183. View abstract
  6. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View abstract
  7. Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain. 2019 10 01; 142(10):3009-3027. View abstract
  8. Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View abstract
  9. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. View abstract
  10. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. View abstract
  11. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 10 04; 103(4):631. View abstract
  12. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007. View abstract
  13. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia. 2018 03; 59(3):679-689. View abstract
  14. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View abstract
  15. Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. Epilepsy Behav Case Rep. 2019; 11:125-128. View abstract
  16. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. View abstract
  17. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View abstract
  18. SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View abstract
  19. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View abstract
  20. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015 Jun; 47:183-90. View abstract
  21. Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. Ann Neurol. 2014 Oct; 76(4):581-93. View abstract
  22. PRRT2-Associated Paroxysmal Movement Disorders. GeneReviews®. 1993. View abstract