Lance Rodan, MD
Neurologist, Department of Neurology
Assistant Professor of Pediatrics, Harvard Medical School
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Lance Rodan, MD
Neurologist, Department of Neurology
Assistant Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
University of Toronto
2008
Toronto, Ontario
Canada
Residency
University of Toronto
2013
Toronto, Ontario
Canada
Fellowship
Harvard Medical School
2016
Boston
MA
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Medical Genetics and Genomics (Medical Biochemical Genetics)
Publications
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. View Abstract
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities. View Abstract
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. View Abstract
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. View Abstract
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. View Abstract
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. View Abstract
Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism. View Abstract
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. View Abstract
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. View Abstract
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. View Abstract
De novo missense variants in phosphatidylinositol kinase PIP5KI? underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. View Abstract
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. View Abstract
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. View Abstract
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. View Abstract
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. View Abstract
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. View Abstract
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. View Abstract
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. View Abstract
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. View Abstract
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. View Abstract
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. View Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. View Abstract
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. View Abstract
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. View Abstract
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. View Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. View Abstract
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. View Abstract
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. View Abstract
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. View Abstract
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. View Abstract
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. View Abstract
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. View Abstract
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. View Abstract
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. View Abstract
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. View Abstract
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. View Abstract
Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. View Abstract
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. View Abstract
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. View Abstract
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. View Abstract
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. View Abstract
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. View Abstract
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. View Abstract
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy. View Abstract
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. View Abstract
Polymicrogyria is Associated With Pathogenic Variants in PTEN. View Abstract
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. View Abstract
L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome. View Abstract
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. View Abstract
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. View Abstract
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. View Abstract
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. View Abstract
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. View Abstract
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. View Abstract
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. View Abstract
VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. View Abstract
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. View Abstract
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. View Abstract
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. View Abstract
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. View Abstract
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. View Abstract
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. View Abstract
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. View Abstract
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. View Abstract
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. View Abstract
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. View Abstract
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. View Abstract
Acute Illness Protocol for Urea Cycle Disorders. View Abstract
Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. View Abstract
Recessive mutations in VPS13D cause childhood onset movement disorders. View Abstract
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. View Abstract
Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. View Abstract
Defining the phenotypic spectrum of SLC6A1 mutations. View Abstract
Acute Illness Protocol for Maple Syrup Urine Disease. View Abstract
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. View Abstract
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. View Abstract
Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. View Abstract
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. View Abstract
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. View Abstract
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. View Abstract
Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child. View Abstract
Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. View Abstract
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. View Abstract
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. View Abstract
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. View Abstract
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. View Abstract
A 10-Month-Old With Intermittent Hypotonia and Paralysis. View Abstract
Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak. View Abstract
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. View Abstract
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. View Abstract
Expansion of phenotype and genotypic data in CRB2-related syndrome. View Abstract
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. View Abstract
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. View Abstract
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. View Abstract
Clinical Use of CSF Neurotransmitters. View Abstract
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. View Abstract
Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. View Abstract
Clinical reasoning: a case of abnormal eye movements in an infant: more than meets the eye. View Abstract
Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases. View Abstract
MR spectroscopy in pediatric Wernicke encephalopathy. View Abstract
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. View Abstract
Reversible splenial lesion syndrome in pediatric systemic lupus erythematosus. View Abstract
Clinical reasoning: encephalopathy in a 10-year-old boy. View Abstract
Stroke recurrence in children with congenital heart disease. View Abstract
A citywide prehospital protocol increases access to stroke thrombolysis in Toronto. View Abstract
Seizures during stroke thrombolysis heralding dramatic neurologic recovery. View Abstract
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