ABOUT THE RESEARCHER

OVERVIEW

Dr. Rodan’s research interests include MRI pattern recognition and functional MRI studies in the diagnosis and management of neurometabolic disorders. He is currently a sub-investigator for 2 ongoing clinical trials at Boston Children’s Hospital, and has also continued his work as a clinician in the Harvard Undiagnosed Diseases Network (UDN).

BACKGROUND

Dr. Rodan completed a residency in Pediatric Neurology at the Hospital for Sick Children in Toronto, Canada. He also obtained certification in EEG electrophysiology through the Canadian Society of Clinical Neurophysiologists (CSCN). He then completed fellowships in both Clinical Genetics and Medical Biochemical Genetics at Harvard Medical School. He participated in the Harvard Undiagnosed Diseases Network (UDN) program from July 2015-June 2016. Dr. Rodan’s particular areas of interest are in the fields of Neurometabolism and Neurogenetics. He has a busy clinical practice at Boston Children’s Hospital, where he sees patients in both Genetics/Metabolism and Neurology clinics.

Selected Publications

Rodan LH, Gibson KM, Pearl PL. Clinical Use of CSF Neurotransmitters. Pediatr Neurol 2015.

Rodan LH, Berry GT. N-acetylcysteine therapy in an infant with transaldolase deficiency is well tolerated and associated with normalization of alpha fetoprotein levels. JIMD Reports 2016.

Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella JF, Picker JD. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene accepted for publication in European Journal of Human Genetics 2016.

Rodan LH, Moufawad El Acktar C, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I. De Novo TUBB2A variant presenting with Anterior Temporal Pachygyria. Journal of Child Neurology 2016.

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Sep 14. View abstract
  2. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2021 Jul 28. View abstract
  3. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 Aug; 90(2):274-284. View abstract
  4. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 Oct; 100(4):468-477. View abstract
  5. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Jun 23. View abstract
  6. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390. View abstract
  7. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 04 26; 30(3-4):135-148. View abstract
  8. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. View abstract
  9. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2021 Mar; 53(3):412. View abstract
  10. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Am J Med Genet A. 2021 05; 185(5):1614-1618. View abstract
  11. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View abstract
  12. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 Jun; 29(6):998-1007. View abstract
  13. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View abstract
  14. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21. View abstract
  15. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112. View abstract
  16. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. View abstract
  17. Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy. Am J Med Genet A. 2021 02; 185(2):555-560. View abstract
  18. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clin Genet. 2020 12; 98(6):571-576. View abstract
  19. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
  20. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2020 10; 52(10):1046-1056. View abstract
  21. L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome. PLoS One. 2020; 15(9):e0238224. View abstract
  22. The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J Hum Genet. 2020 Nov; 65(11):1003-1017. View abstract
  23. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154. View abstract
  24. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. View abstract
  25. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genet Med. 2020 06; 22(6):1061-1068. View abstract
  26. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595. View abstract
  27. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 03; 22(3):538-546. View abstract
  28. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. View abstract
  29. VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Mov Disord Clin Pract. 2019 Jul; 6(6):494-497. View abstract
  30. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 06 06; 104(6):1210-1222. View abstract
  31. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 May 02; 10(1):2079. View abstract
  32. Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. Brain. 2019 05 01; 142(5):e15. View abstract
  33. Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View abstract
  34. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genet Med. 2019 09; 21(9):2043-2058. View abstract
  35. 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
  36. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 02 15; 10(1):883. View abstract
  37. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. . 2018 12; 176(12):2554-2560. View abstract
  38. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619. View abstract
  39. 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
  40. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. View abstract
  41. Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. View abstract
  42. Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. Clin Chem. 2018 05; 64(5):870-872. View abstract
  43. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018 06; 83(6):1089-1095. View abstract
  44. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. View abstract
  45. Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. Eur J Paediatr Neurol. 2018 May; 22(3):544-547. View abstract
  46. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402. View abstract
  47. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. View abstract
  48. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View abstract
  49. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View abstract
  50. Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. Clin Chem. 2017 11; 63(11):1771-1773. View abstract
  51. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View abstract
  52. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View abstract
  53. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View abstract
  54. Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child. Clin Chem. 2017 06; 63(6):1171-1173. View abstract
  55. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. View abstract
  56. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. View abstract
  57. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833. View abstract
  58. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View abstract
  59. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827. View abstract
  60. A 10-Month-Old With Intermittent Hypotonia and Paralysis. Pediatrics. 2016 07; 138(1). View abstract
  61. Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak. Clin Chem. 2016 05; 62(5):781-2. View abstract
  62. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. JIMD Rep. 2017; 31:73-77. View abstract
  63. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35. View abstract
  64. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016 10; 24(10):1436-44. View abstract
  65. Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. Neurol Genet. 2016 Feb; 2(1):e43. View abstract
  66. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000562. View abstract
  67. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View abstract
  68. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View abstract
  69. L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. PLoS One. 2015; 10(5):e0127066. View abstract
  70. Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 2015 May; 22:66-74. View abstract
  71. Clinical reasoning: a case of abnormal eye movements in an infant: more than meets the eye. Neurology. 2013 Oct 08; 81(15):e112-5. View abstract
  72. Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases. J Child Neurol. 2014 May; 29(5):677-83. View abstract
  73. MR spectroscopy in pediatric Wernicke encephalopathy. Neurology. 2013 Mar 05; 80(10):969. View abstract
  74. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. JIMD Rep. 2013; 11:7-11. View abstract
  75. Reversible splenial lesion syndrome in pediatric systemic lupus erythematosus. J Rheumatol. 2012 Aug; 39(8):1698-9. View abstract
  76. Clinical reasoning: encephalopathy in a 10-year-old boy. Neurology. 2012 Jul 17; 79(3):e12-8. View abstract
  77. Stroke recurrence in children with congenital heart disease. Ann Neurol. 2012 Jul; 72(1):103-11. View abstract
  78. A citywide prehospital protocol increases access to stroke thrombolysis in Toronto. Stroke. 2009 Dec; 40(12):3841-4. View abstract
  79. Seizures during stroke thrombolysis heralding dramatic neurologic recovery. Neurology. 2006 Dec 12; 67(11):2048-9. View abstract