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Author Details

Erin L Heinzen
University of North Carolina at Chapel Hill.
2001
88
39
PMIDPaper TitleJournal TitlePublished Year
37126322Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.JAMA Neurol2023
37562820Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions.Epilepsia2023
38077069Loss of <i>Slc35a2</i> alters development of the mouse cerebral cortex.bioRxiv2023
37579995Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.Neurobiol Dis2023
37872450Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.Nat Genet2023
34799694The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.Mol Psychiatry2022
35441233Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.Brain2022
35636315Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.EBioMedicine2022
36534060Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.Ann Neurol2022
35298028A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.Epilepsia2022
35137044Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Hum Mol Genet2022
34569149Genomic analysis of "microphenotypes" in epilepsy.Am J Med Genet A2022
32948840Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.J Hum Genet2021
33508234De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Am J Hum Genet2021
34396101Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.Brain Commun2021
34041744CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.Epilepsia2021
34038384Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.Neurology2021
30711678De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.Eur J Med Genet2020
32802951D-DEMÿ, a distinct phenotype caused by <i>ATP1A3</i> mutations.Neurol Genet2020
32759205Development and validation of a predictive model of drug-resistant genetic generalized epilepsy.Neurology2020
33013448A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and <i>in vitro</i> Rescue by β-Hydroxybutyrate.Front Physiol2020
32422520Somatic variants in epilepsy - advancing gene discovery and disease mechanisms.Curr Opin Genet Dev2020
30578417The copy number variation landscape of congenital anomalies of the kidney and urinary tract.Nat Genet2019
31177578Autism and developmental disability caused by KCNQ3 gain-of-function variants.Ann Neurol2019
31153890New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach.Prog Neuropsychopharmacol Biol Psychiatry2019
30827496Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.Am J Hum Genet2019
30816350Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.Nat Genet2019
29679388Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.Ann Neurol2018
30244534Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.Am J Med Genet A2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
30194818Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.Am J Med Genet A2018
30269351NBEA: Developmental disease gene with early generalized epilepsy phenotypes.Ann Neurol2018
29741288Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics.Epilepsia2018
29738522De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.PLoS Genet2018
27977874Reply.Ann Neurol2017
29186148A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.PLoS Genet2017
28942967De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.Am J Hum Genet2017
28794409Annotating pathogenic non-coding variants in genic regions.Nat Commun2017
28864461Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.Cold Spring Harb Mol Case Stud2017
27108799Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Am J Hum Genet2016
27453577Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.Am J Hum Genet2016
27226047Primer Part 1-The building blocks of epilepsy genetics.Epilepsia2016
26799155Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis.Epilepsia2016
25681536A functional correlate of severity in alternating hemiplegia of childhood.Neurobiol Dis2015
26410222Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.Orphanet J Rare Dis2015
27066543Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.Neurol Genet2015
25840007The genetics of neuropsychiatric diseases: looking in and beyond the exome.Annu Rev Neurosci2015
24183923Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).Seizure2014
24836453Utilizing population controls in rare-variant case-parent association tests.Am J Hum Genet2014
24739246Distinct neurological disorders with ATP1A3 mutations.Lancet Neurol2014
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Tristan T Sands
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Dalia Kasperaviciute
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Kenneth D Cronin
Human Vaccine Institute, Duke University Medical Center Durham
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Christopher A Walsh
Broad Institute of MIT and Harvard
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Nicholas W Wood
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Lynette G Sadleir
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Massimo Pandolfo
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Melanie Bahlo
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Release 1.2