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Ion channel gene defects

Latest Articles

  • Research Article
    Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
    Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, et al.
    Neurology October 28, 2022
  • Research Article
    Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
    Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, et al.
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    Dravet SyndromeDon't Hesitate, Just Vaccinate!
    Katherine C. Nickels, Elaine C. Wirrell
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    Pearls & Oy-sters: Genetic EpilepsyAn Important Cause of Neonatal Seizures in Infants With Complex Congenital Heart Disease
    Vanna Kazazian, Thiviya Selvanathan, Vann Chau, et al.
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Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

Dr. Robert Pitceathly and Dr. William Macken

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    Specific Surgical Techniques at the National Association of Epilepsy Centers
    Dr. Halley Alexander talks with Dr. Anto Bagic about the utilization of specific surgical techniques for epilepsy from the NAEC. March 21, 2023
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