Publications


Kang SK, et al. 2024. Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant. Neurobiol Dis (May 2024)

Chi W, Kiskinis E. 2024. Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations. Sci Rep (Feb 2024)

Abreo TJ, et al. 2024. Plural molecular and cellular mechanisms of pore domain encephalopathy. bioRxiv (Feb 2024)

Clatot J, et al. 2024. A structurally precise mechanism links an epilepsy-associated potassium channel mutation to interneuron dysfunction. Proc Natl Acad Sci U S A (Jan 2024)

Echevarria-Cooper DM, Kearney JA. 2023. Evaluating the interplay between estrous cyclicity and flurothyl-induced seizure susceptibility in mice. MicroPubl Biol (2023)

Panagiotakaki E, et al. 2024. Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. Eur J Hum Genet (Feb 2024)

Jeffries L, et al. 2024. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genet Med (Feb 2024)

Camp CR, et al. 2023. Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons. Commun Biol (Sep 2023)

Stefanski A, et al. 2023. SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. Brain (Dec 2023)

Varghese N, et al. 2023. KCNQ2/3 Gain-of-Function Variants and Cell Excitability: Differential Effects in CA1 versus L2/3 Pyramidal Neurons. J Neurosci (Sep 2023)

Thompson CH, et al. 2023. Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties. J Gen Physiol (Oct 2023)

Murphy M, et al. 2024. A Potential Source of Bias in Group-Level EEG Microstate Analysis. Brain Topogr (Mar 2024)

Hou B, et al. 2023. KCNQ2 channels regulate the population activity of neonatal GABAergic neurons . Front Neurol (2023)

Myers SJ, et al. 2023. Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Hum Mol Genet (Sep 2023)

Chi W, Kiskinis E. 2023. Integrative Analysis of Epilepsy-Associated Genes Reveals Expression-Phenotype Correlations. bioRxiv (Jun 2023)

Echevarria-Cooper DM, et al. 2023. Strain-dependent effects on neurobehavioral and seizure phenotypes in mice. bioRxiv (Jun 2023)

Pablo JLB, et al. 2023. Scanning mutagenesis of the voltage-gated sodium channel Na1.2 using base editing. Cell Rep (Jun 2023)

Echevarria-Cooper DM, Kearney JA. 2023. Evaluating the interplay between estrous cyclicity and induced seizure susceptibility in mice. bioRxiv (Apr 2023)

Daniali M, et al. 2023. Enriching representation learning using 53 million patient notes through human phenotype ontology embedding. Artif Intell Med (May 2023)

Kang SK, et al. 2023. Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent -p.R306C voltage-sensor variant. bioRxiv (Mar 2023)

Thompson CH, et al. 2023. Epilepsy-associated (Na 1.2) Variants Exhibit Diverse and Complex Functional Properties. bioRxiv (Feb 2023)

Kaufman MC, et al. 2023. Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID-19 pandemic. Dev Med Child Neurol (Mar 2023)

Forrest MP, et al. 2023. Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub. Nat Commun (Feb 2023)

Ruggiero SM, et al. 2023. The current landscape of epilepsy genetics: where are we, and where are we going? Curr Opin Neurol (Apr 2023)

Clatot J, et al. 2023. A KCNC1-related neurological disorder due to gain of Kv3.1 function. Ann Clin Transl Neurol (Jan 2023)

Parthasarathy S, et al. 2022. A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. Am J Hum Genet (Dec 2022)

Mazzaferro S, et al. 2022. Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening. Int J Mol Sci (Oct 2022)

Clatot J, et al. 2023. SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy. Epilepsia (May 2023)

Brünger T, et al. 2023. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain (Mar 2023)

Seiffert S, et al. 2022. Modulating effects of FGF12 variants on Na1.2 and Na1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine (Sep 2022)

Gavazzi F, et al. 2022. Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN). Mol Genet Metab (2022)

Jacobwitz M, et al. 2022. Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus. Neurology (Sep 2022)

Zybura AS, et al. 2022. CaMKII Inhibition Attenuates Distinct Gain-of-Function Effects Produced by Mutant Nav1.6 Channels and Reduces Neuronal Excitability. Cells (Jul 2022)

Akbari H, et al. 2022. Genetic Testing and Hospital Length of Stay in Neonates With Epilepsy. Pediatr Neurol (Aug 2022)

Knowles JK, et al. 2022. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia (Oct 2022)

Brunklaus A, et al. 2022. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain (Nov 2022)

Oliver KL, et al. 2022. Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. EBioMedicine (Jul 2022)

Hammer MF, et al. 2022. Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus. Epilepsia (Aug 2022)

Prelack M, et al. 2022. Visits of concern in child neurology telemedicine. Dev Med Child Neurol (Nov 2022)

Lewis-Smith D, et al. 2022. Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery. Hum Mutat (Nov 2022)

Simkin D, et al. 2022. 'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies. Trends Pharmacol Sci (May 2022)

Echevarria-Cooper DM, et al. 2022. Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice. Hum Mol Genet (Aug 2022)

Gertler TS, et al. 2022. K1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons. Neurobiol Dis (Jun 2022)

Schwarz N, et al. 2022. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With Pathogenic Variants. Neurology (May 2022)

Zhang YL, et al. 2022. Novel Fluorescence-Based High-Throughput FLIPR Assay Utilizing Membrane-Tethered Genetic Calcium Sensors to Identify T-Type Calcium Channel Modulators. ACS Pharmacol Transl Sci (Mar 2022)

Simkin D, et al. 2022. Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls. Stem Cell Reports (Apr 2022)

Vanoye CG, et al. 2022. High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity. JCI Insight (Mar 2022)

Brunklaus A, et al. 2022. Development and Validation of a Prediction Model for Early Diagnosis of -Related Epilepsies. Neurology (Mar 2022)

Baez-Nieto D, et al. 2022. Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. Brain (Jun 2022)

Stefanski A, et al. 2022. Identification and quantification of oligogenic loss-of-function disorders. Genet Med (Mar 2022)

Johannesen KM, et al. 2022. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain (Sep 2022)

Ganguly S, et al. 2021. Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy. J Physiol (Sep 2021)

Zybura A, et al. 2021. Distinctive Properties and Powerful Neuromodulation of Na1.6 Sodium Channels Regulates Neuronal Excitability. Cells (Jun 2021)

Fitzgerald MP, et al. 2021. Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach. Epilepsia (Jul 2021)

Lewis-Smith D, et al. 2021. Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data. Eur J Hum Genet (Nov 2021)

Lewis-Smith D, et al. 2021. Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable. Epilepsia (Jun 2021)

Hou B, et al. 2021. Loss of KCNQ2 or KCNQ3 Leads to Multifocal Time-Varying Activity in the Neonatal Forebrain . eNeuro (2021)

Springer K, et al. 2021. Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders. Dev Neurosci (2021)

Crawford K, et al. 2021. Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders. Genet Med (Jul 2021)

Varghese N, et al. 2021. KCNQ3 is the principal target of retigabine in CA1 and subicular excitatory neurons. J Neurophysiol (Apr 2021)

Simkin D, et al. 2021. Dyshomeostatic modulation of Ca-activated K channels in a human neuronal model of KCNQ2 encephalopathy. Elife (Feb 2021)

DeKeyser JM, et al. 2021. Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria. J Biol Chem (2021)

Hawkins NA, et al. 2021. Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant. Neurobiol Dis (Jan 2021)

Galer PD, et al. 2020. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. Am J Hum Genet (Oct 2020)

Ganesan S, et al. 2020. A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation. Genet Med (Dec 2020)

Adney SK, et al. 2020. Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy. Ann Clin Transl Neurol (Sep 2020)

Helbig I, et al. 2020. Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome. Ann Clin Transl Neurol (Aug 2020)

Zybura AS, et al. 2020. CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability. J Biol Chem (Aug 2020)

Helbig I, Ellis CA. 2020. Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers. Neuropharmacology (Aug 2020)

Mason ER, Cummins TR. 2020. Differential Inhibition of Human Nav1.2 Resurgent and Persistent Sodium Currents by Cannabidiol and GS967. Int J Mol Sci (Apr 2020)

Lewis-Smith D, et al. 2020. Early-onset genetic epilepsies reaching adult clinics. Brain (Mar 2020)

Ghoshal A, et al. 2020. Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits. Transl Psychiatry (Jan 2020)

Thompson CH, et al. 2020. Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants. J Gen Physiol (Mar 2020)

Pan Y, Cummins TR. 2020. Distinct functional alterations in SCN8A epilepsy mutant channels. J Physiol (Jan 2020)

Kang SK, et al. 2019. Spectrum of K 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol (Dec 2019)

Gertler TS, et al. 2019. Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy. Ann Clin Transl Neurol (Sep 2019)

Mason ER, et al. 2019. Resurgent and Gating Pore Currents Induced by Epilepsy Mutations. eNeuro (2019)

Zaman T, et al. 2019. A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization. Ann Clin Transl Neurol (Aug 2019)

Helbig I, et al. 2019. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet (Jun 2019)

Helbig I, et al. 2018. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat (Nov 2018)

Yanling Pan, Theodore R. Cummins, Distinct functional alterations in SCN8A epilepsy mutant channels. J Physiol. 2019