|
| 37783824 | A Comparison of Ketamine and Midazolam as First-Line Anesthetic Infusions for Pediatric Status Epilepticus. | Neurocrit Care | 2024 |
| 37953324 | The Human Phenotype Ontology in 2024: phenotypes around the world. | Nucleic Acids Res | 2024 |
| 36287100 | SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy. | Epilepsia | 2023 |
| 38014225 | Molecular and Cellular Context Influences SCN8A Variant Function. | bioRxiv | 2023 |
| 37580177 | Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis. | Brief Bioinform | 2023 |
| 37496463 | A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy. | Epilepsia | 2023 |
| 37723282 | Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons. | Commun Biol | 2023 |
| 37425705 | Early life seizures and epileptic spasms in <i>STXBP1</i>-related disorders. | medRxiv | 2023 |
| 37215006 | Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disorders. | medRxiv | 2023 |
| 37077567 | Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus. | Front Neurol | 2023 |
| 37407264 | Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>. | Neurology | 2023 |
| 37039049 | Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus. | Epilepsia | 2023 |
| 37100502 | Enriching representation learning using 53 million patient notes through human phenotype ontology embedding. | Artif Intell Med | 2023 |
| 37474567 | Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. | Nat Commun | 2023 |
| 37360341 | <i>KCNC2</i> variants of uncertain significance are also associated to various forms of epilepsy. | Front Neurol | 2023 |
| 37331727 | GLUT1, GGE, and the resilient fallacy of refuted epilepsy genes. | Seizure | 2023 |
| 36963911 | Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study. | Lancet Digit Health | 2023 |
| 36625631 | A disease concept model for STXBP1-related disorders. | Epilepsia Open | 2023 |
| 36720654 | Guardians of the epilepsy genome. | Eur J Paediatr Neurol | 2023 |
| 36648066 | Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disorders. | Elife | 2023 |
| 36608676 | A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespan. | Cell Stem Cell | 2023 |
| 36833327 | Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature. | Genes (Basel) | 2023 |
| 36762645 | The current landscape of epilepsy genetics: where are we, and where are we going? | Curr Opin Neurol | 2023 |
| 35104249 | High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity. | JCI Insight | 2022 |
| 35613622 | Base editing the synapse: Modeling a complex neurological disorder in non-human primates. | Mol Ther | 2022 |
| 35794479 | Molecular landscapes of human hippocampal immature neurons across lifespan. | Nature | 2022 |
| 35759918 | Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning. | EBioMedicine | 2022 |
| 35636315 | Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. | EBioMedicine | 2022 |
| 35460582 | Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery. | Hum Mutat | 2022 |
| 35817569 | Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus. | Neurology | 2022 |
| 35716052 | Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. | Epilepsia | 2022 |
| 35592948 | 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 | 2022 |
| 35514061 | Visits of concern in child neurology telemedicine. | Dev Med Child Neurol | 2022 |
| 35484572 | SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. | Genome Med | 2022 |
| 35414846 | Multicenter Study of the Impact of COVID-19 Shelter-In-Place on Tertiary Hospital-based Care for Pediatric Neurologic Disease. | Neurohospitalist | 2022 |
| 36420423 | Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature. | Mol Genet Metab Rep | 2022 |
| 35997131 | Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy. | Mov Disord | 2022 |
| 35902925 | PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care. | BMC Med Inform Decis Mak | 2022 |
| 36096688 | Teaching NeuroImage: Selectively Bright Inferior Cerebellum in Christianson Syndrome. | Neurology | 2022 |
| 36029553 | Modulating effects of FGF12 variants on Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. | EBioMedicine | 2022 |
| 35878504 | Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN). | Mol Genet Metab | 2022 |
| 35190816 | Assessing the landscape of STXBP1-related disorders in 534 individuals. | Brain | 2022 |
| 35314505 | Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants. | Neurology | 2022 |
| 35065284 | Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? | J Mol Diagn | 2022 |
| 35296891 | Atypical development of Broca's area in a large family with inherited stuttering. | Brain | 2022 |
| 35229292 | Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies. | Dev Med Child Neurol | 2022 |
| 33411776 | The dose makes the poison-Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing. | PLoS Genet | 2021 |
| 33909992 | Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. | Am J Hum Genet | 2021 |
| 33571536 | Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1. | J Allergy Clin Immunol | 2021 |
| 33508732 | Child Neurology Telemedicine: Understanding the Data We Have and Finding the Patients We Do Not See. | Pediatr Neurol | 2021 |