Meisler, Miriam H.

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., et al. (2000) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 996

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Veeramah, K. R., O'Brien, J. E., Meisler, M. H., Cheng, X., Dib-Hajj, S. D., Waxman, S. G., Talwar, D., Girirajan, S., Eichler, E. E., Restifo, L. L., et al. (2012) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 438

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Chow, C. Y., Landers, J. E., Bergren, S. K., Sapp, P. C., Grant, A. E., Jones, J. M., Everett, L., Lenk, G. M., McKenna-Yasek, D. M., Weisman, L. S., et al. (2009) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 407

Altered Subthreshold Sodium Currents and Disrupted Firing Patterns in Purkinje Neurons of Scn8a Mutant Mice

Raman, I. M., Sprunger, L. K., Meisler, M. H., & Bean, B. P. (1997) · Neuron

Ion channel regulation and functionCardiac electrophysiology and arrhythmias

Cited by 390

Incidence of Dravet Syndrome in a US Population

Wu, Y. W., Sullivan, J., McDaniel, S. S., Meisler, M. H., Walsh, E. M., Li, S. X., & Kuzniewicz, M. W. (2015) · Pediatrics

Epilepsy research and treatmentIon channel regulation and function

Cited by 248

Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases

Catterall, W. A., Dib-Hajj, S., Meisler, M. H., & Pietrobon, D. (2008) · The Journal of Neuroscience

Ion channel regulation and functionEpilepsy research and treatment

Cited by 237

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

Gehman, L. T., Meera, P., Stoilov, P., Shiue, L., O'Brien, J. E., Meisler, M. H., Ares, M., Otis, T. S., & Black, D. L. (2012) · Genes & Development

RNA Research and SplicingGenetics and Neurodevelopmental Disorders

Cited by 213

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

Ferguson, C. J., Lenk, G. M., & Meisler, M. H. (2009) · Human Molecular Genetics

Autophagy in Disease and TherapyHereditary Neurological Disorders

Cited by 202

Alternative Splicing of the Sodium Channel SCN8A Predicts a Truncated Two-domain Protein in Fetal Brain and Non-neuronal Cells

Plummer, N. W., McBurney, M. W., & Meisler, M. H. (1997) · Journal of Biological Chemistry

Ion channel regulation and functionRNA Research and Splicing

Cited by 155

Mutation Detection in the and Alleles of the Sodium Channel

Kohrman, D. C., Harris, J. B., & Meisler, M. H. (1996) · Journal of Biological Chemistry

RNA Research and SplicingIon channel regulation and function

Cited by 140

Impaired Motor Function in Mice With Cell-Specific Knockout of Sodium Channel Scn8a (Na V 1.6) in Cerebellar Purkinje Neurons and Granule Cells

Levin, S. I., Khaliq, Z. M., Aman, T. K., Grieco, T. M., Kearney, J. A., Raman, I. M., & Meisler, M. H. (2006) · Journal of Neurophysiology

Ion channel regulation and functionNeuroscience and Neuropharmacology Research

Cited by 138

SCNM1, a Putative RNA Splicing Factor That Modifies Disease Severity in Mice

Buchner, D. A., Trudeau, M., & Meisler, M. H. (2003) · Science

RNA Research and SplicingIon channel regulation and function

Cited by 137

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

Papale, L. A., Beyer, B., Jones, J. M., Sharkey, L. M., Tufik, S., Epstein, M., Letts, V. A., Meisler, M. H., Frankel, W. N., & Escayg, A. (2009) · Human Molecular Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 127

Sodium Channels and Neurological Disease: Insights from Scn8a Mutations in the Mouse

Meisler, M. H., Kearney, J., Escayg, A., Macdonald, B. T., & Sprunger, L. K. (2001) · The Neuroscientist

Ion channel regulation and functionHereditary Neurological Disorders

Cited by 68

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

O'Brien, J. E., Drews, V. L., Jones, J. M., Dugas, J. C., Barres, B. A., & Meisler, M. H. (2012) · Molecular and Cellular Neuroscience

RNA Research and SplicingIon channel regulation and function

Cited by 49

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Vaccari, I., Carbone, A., Previtali, S. C., Mironova, Y. A., Alberizzi, V., Noseda, R., Rivellini, C., Bianchi, F., Del Carro, U., D'Antonio, M., et al. (2015) · Human Molecular Genetics

Hereditary Neurological DisordersLysosomal Storage Disorders Research

Cited by 49

PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

Mironova, Y. A., Lenk, G. M., Lin, J.-P., Lee, S. J., Twiss, J. L., Vaccari, I., Bolino, A., Havton, L. A., Min, S. H., Abrams, C. S., et al. (2016) · eLife

Neurogenesis and neuroplasticity mechanismsCellular transport and secretion

Cited by 35

Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2

Hill, S. F., Ziobro, J. M., Jafar‐Nejad, P., Rigo, F., & Meisler, M. H. (2022) · Epilepsia

Ion channel regulation and functionEpilepsy research and treatment

Cited by 19

Reduced Nav1.6 sodium channel activity in mice increases in vivo sensitivity to volatile anesthetics

Pal, D., Jones, J. M., Wisidagamage, S., Meisler, M. H., & Mashour, G. A. (2015) · PLOS ONE

Anesthesia and Sedative AgentsIon channel regulation and function

Cited by 17

A Targeted Deleterious Allele of the Splicing Factor SCNM1 in the Mouse

Howell, V. M., de Haan, G., Bergren, S., Jones, J. M., Culiat, C. T., Michaud, E. J., Frankel, W. N., & Meisler, M. H. (2008) · Genetics

RNA Research and SplicingIon channel regulation and function

Cited by 8