I provide families with a compassionate and comprehensive understanding of their child’s condition.

EDUCATION

Medical School

  • University of Alabama at Birmingham , 2011 , Birmingham , AL

Residency

  • Boston Combined Residency Program (BCRP) , 2013 , Boston , MA

Residency

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

Fellowship

Neurogenetics, Epilepsy Genetics
  • Boston Children's Hospital , 2016 , Boston , MA

Philosophy of Care

Medicine is the intersection between science and humanity - my passion is bridging this gap. At the bedside, I provide families with a compassionate and comprehensive understanding of their child’s condition, and at the bench I utilize novel scientific techniques to better understand the developing brain.

PROFESSIONAL HISTORY

My passion in child neurology is caring for patients with infantile spasms, neurogenetic conditions, and studying the underlying molecular basis for neurologic disorders. I obtained a Bachelor of Arts with High Distinction in Cognitive Science with emphasis in neuroscience at the University of Virginia. I received MD/PhD degrees through the MSTP program the University of Alabama at Birmingham. My graduate work identified misregulation of glycogen synthase kinase-3 as a potential target for therapeutic intervention in Fragile X syndrome. I completed my pediatrics training in the Boston Combined Residency Program followed by child neurology residency and neurogenetics fellowship at Boston Children’s Hospital.

I am co-director of the Infantile Spasms Program at Boston Children’s Hospital and a member of the ClinGen Brain Malformations Gene Curation Expert Panel. My current clinical research focused on predictors of outcomes in children with infantile spasms. My laboratory research focuses on how alterations to nutrient sensing genes (e.g. DEPDC5, NPRL2, NPRL3) leads to epilepsy and brain malformations, and targeting this pathway for therapeutic intervention.

I see patients for consultation in the Infantile Spasms Program, Brain and Developmental Genetics Clinic, and Epilepsy Genetics Programs. I also serve as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

CERTIFICATIONS

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

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Confirmation of infantile spasms resolution by prolonged outpatient EEGs. Epilepsia Open. 2021 Sep 15. View abstract
  2. Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review. Ann Clin Transl Neurol. 2021 07; 8(7):1388-1397. View abstract
  3. Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. J Child Neurol. 2021 06; 36(7):575-582. View abstract
  4. Cost-effectiveness of adrenocorticotropic hormone versus oral steroids for infantile spasms. Epilepsia. 2021 02; 62(2):347-357. View abstract
  5. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. View abstract
  6. Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol. 2020 10; 35(12):828-834. View abstract
  7. Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217. View abstract
  8. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View abstract
  9. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron. 2020 04 22; 106(2):246-255.e6. View abstract
  10. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. Hum Mol Genet. 2019 09 01; 28(17):2952-2964. View abstract
  11. Correction: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Aug; 21(8):1896. View abstract
  12. Correction to: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Jul; 21(7):1671. View abstract
  13. Brain MRI abnormalities in patients with infantile spasms and Down syndrome. Epilepsy Behav. 2019 03; 92:57-60. View abstract
  14. The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 02; 21(2):398-408. View abstract
  15. Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies. JAMA Pediatr. 2018 08 01; 172(8):779-780. View abstract
  16. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatr Neurol. 2018 10; 87:48-56. View abstract
  17. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View abstract
  18. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018 03; 111:91-101. View abstract
  19. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5). View abstract
  20. A Tangled Web. Neurohospitalist. 2015 Oct; 5(4):253-4. View abstract
  21. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51. View abstract
  22. Megalencephaly and Macrocephaly. Semin Neurol. 2015 Jun; 35(3):277-87. View abstract
  23. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82. View abstract
  24. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12; 501(7466):217-21. View abstract
  25. Evidence of reactive astrocytes but not peripheral immune system activation in a mouse model of Fragile X syndrome. Biochim Biophys Acta. 2010 Nov; 1802(11):1006-12. View abstract
  26. GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS One. 2010 Mar 16; 5(3):e9706. View abstract
  27. Lithium ameliorates altered glycogen synthase kinase-3 and behavior in a mouse model of fragile X syndrome. Biochem Pharmacol. 2010 Feb 15; 79(4):632-46. View abstract
  28. Glycogen synthase kinase-3 regulates microglial migration, inflammation, and inflammation-induced neurotoxicity. Cell Signal. 2009 Feb; 21(2):264-73. View abstract
  29. Elevated glycogen synthase kinase-3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential. Neuropharmacology. 2009 Feb; 56(2):463-72. View abstract
  30. Glycogen synthase kinase-3 (GSK3): inflammation, diseases, and therapeutics. Neurochem Res. 2007 Apr-May; 32(4-5):577-95. View abstract