Explanipedia

Epilepsy-associated Variants of a Single SCN1A Codon exhibit Divergent Functional Properties Open

Lanie N. Liebovitz, Christopher H. Thompson, Linda Laux, Alfred L. George · 2025

Objective Pathogenic variants in SCN1A, which encodes the voltage gated sodium channel Na V 1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. Loss or gain of function SCN1A variants are reported …

Machine Learning Resolves Functional Phenotypes and Therapeutic Responses in KCNQ2 Developmental Epileptic Encephalopathy iPSC Models Open

Dina Simkin, Syed M.A. Wafa, Mennat Gharib, Kelly A. Marshall, Yezi Yang , et al. · 2025

Pathogenic KCNQ2 variants are associated with developmental and epileptic encephalopathy (KCNQ2-DEE), a devastating disorder characterized by neonatal-onset seizures and impaired neurodevelopment with no effective treatments. KCNQ2 encodes…

In vivo prime editing rescues alternating hemiplegia of childhood in mice Open

Alexander A. Sousa, Markus Terrey, Hiroki Sakai, Christine Q. Simmons, Elena Arystarkhova , et al. · 2025

Alternating hemiplegia of childhood (AHC) is a neurodevelopmental disorder with no disease-modifying treatment. Mutations in ATP1A3, encoding an Na⁺/K⁺ ATPase subunit, cause 70% of AHC cases. Here, we present prime ed…

Status Epilepticus Protocol Variation Across Accredited National Association of Epilepsy Centers Members Open

Laura K. Lamberta, Melissa M. Asmar, Megan Fredwall, Stephanie M. Ahrens, Shasha Bai , et al. · 2025

Despite the importance of timeliness in SE management, one third of institutional protocols did not specify treatment times. This analysis of US hospital inpatient SE protocols provides expert opinion regarding infusion therapy management …

It’s About Time! Timing in Epilepsy Evaluation and Treatment Open

Heather McKee, Jorge Vidaurre, Dave Clarke, Janelle L. Wagner, Jeffrey W. Britton , et al. · 2024

The 2023 American Epilepsy Society Annual Course “It’s About Time” addressed timing in epilepsy evaluation and treatment with respect to health disparity and vulnerable populations and diagnostic, clinical, and epilepsy surgery evaluation.…

Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study Open

Μ. Scott Perry, Ingrid E. Scheffer, Joseph Sullivan, Andreas Brunklaus, Susana Boronat , et al. · 2023

Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden, treatment‐resistant epilepsy, and developmental stagnation. Family members rate communication deficits among the most impa…

Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo‐controlled clinical trial Open

Joseph Sullivan, Lieven Lagae, J. Helen Cross, Orrin Devinsky, Renzo Guerrini , et al. · 2023

Objective This study was undertaken to assess the safety and efficacy of fenfluramine in the treatment of convulsive seizures in patients with Dravet syndrome. Methods This multicenter, randomized, double‐blind, placebo‐controlled, paralle…

COVID‐19 vaccine in patients with Dravet syndrome: Observations and real‐world experiences Open

Veronica Hood, Anne T. Berg, Kelly G. Knupp, Sookyong Koh, Linda Laux , et al. · 2022

Objective Vaccination against the SARS‐CoV‐2 virus is a primary tool to combat the COVID‐19 pandemic. However, vaccination is a common seizure trigger in individuals with Dravet syndrome (DS). Information surrounding COVID‐19 vaccine side …

Dravet syndrome: A quick transition guide for the adult neurologist Open

Danielle M. Andrade, Anne T. Berg, Veronica Hood, Kelly G. Knupp, Sookyong Koh , et al. · 2021

Several young adults with DS are still followed by their child neurologist. This 2-page transition guide should help facilitate the transition of patients with DS to the adult HCS and should be given to families as well as adult health car…

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy Open

Egidio Spinelli, Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy , et al. · 2021

Objective The MAST family of microtubule‐associated serine–threonine kinases (STKs) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been conclusively associated with neurologica…

PathogenicMAST3variants in the STK domain are associated with epilepsy Open

Egidio Spinelli, Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy , et al. · 2021

Objective The MAST family of microtubule-associated serine-threonine kinases (STK) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been associated with neurological disease, wit…

Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy Open

Dina Simkin, Kelly A. Marshall, Carlos G. Vanoye, Reshma R. Desai, Bernabé I. Bustos , et al. · 2021

Mutations in KCNQ2 , which encodes a pore-forming K + channel subunit responsible for neuronal M-current, cause neonatal epileptic encephalopathy, a complex disorder presenting with severe early-onset seizures and impaired neurodevelopment…

Author response: Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy Open

Dina Simkin, Kelly A. Marshall, Carlos G. Vanoye, Reshma R. Desai, Bernabé I. Bustos , et al. · 2021

Article Figures and data Abstract Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Mutations in KCNQ2, which encodes a pore-f…

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism Open

Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema , et al. · 2020

Corrigendum to “A single-center, retrospective analysis of genotype–phenotype correlations in children with Dravet syndrome” [Seizure: Eur. J. Epilepsy 75 (2020) 1–6] Open

Tracy S. Gertler, Jeffrey D. Calhoun, Linda Laux · 2020

A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome Open

Tracy S. Gertler, Jeffrey D. Calhoun, Linda Laux · 2019

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens Open

Rima Nabbout, Arun Mistry, Sameer M. Zuberi, Nathalie Villeneuve, António Gil‐Nagel , et al. · 2019

ClinicalTrials.gov identifier: NCT02926898.

The ketogenic diet in children 3 years of age or younger: a 10-year single-center experience Open

Se Hee Kim, Alexandra Shaw, Robyn Blackford, Wesley Lowman, Linda Laux , et al. · 2019

The ketogenic diet (KD) is an effective treatment option for intractable epilepsy. Here, we reviewed the last 10 years of our experience with the KD and characterized its use in patients under 3 years of age. Medical records of all patient…

Seizure burden in severe early‐life epilepsy: Perspectives from parents Open

Anne T. Berg, Karen Kaiser, Tracy Dixon‐Salazar, Andi Elliot, Nancy McNamara , et al. · 2019

Objectives Seizure burden is typically measured by seizure frequency yet it entails more than seizure counts, especially for people with severe epilepsies and their caregivers. We aimed to characterize the multi‐faceted nature of seizure b…

Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results Open

Linda Laux, E. Martina Bebin, Daniel Checketts, Michael Chez, Robert Flamini , et al. · 2019

Results from this interim analysis support add-on CBD as an effective long-term treatment option in LGS or DS.

Impaired M-current in KCNQ2 Encephalopathy Evokes Dyshomeostatic Modulation of Excitability Open

Dina Simkin, Timothy J. Searl, Brandon N Piyevsky, Marc P. Forrest, Luis A. Williams , et al. · 2019

Mutations in KCNQ2 , which encodes a pore-forming K + channel subunit responsible for neuronal M-current, cause neonatal epileptic encephalopathy, a complex disorder presenting with severe early-onset seizures and impaired neurodevelopment…

Functional Consequences of Epilepsy-Associated KCNQ2 Variants Determinend by Automated Electrophysiology Open

Carlos G. Vanoye, Reshma R. Desai, Shannon L. Gallagher, Dina Sinkim, Linda Laux , et al. · 2019

Long‐term cannabidiol treatment in patients with Dravet syndrome: An open‐label extension trial Open

Orrin Devinsky, Rima Nabbout, Ian Miller, Linda Laux, Marta Żołnowska , et al. · 2018

Summary Objective Add‐on cannabidiol (CBD) significantly reduced seizures associated with Dravet syndrome (DS) in a randomized, double‐blind, placebo‐controlled trial: GWPCARE1 Part B (NCT02091375). Patients who completed GWPCARE1 Part A (…

Long‐term safety and treatment effects of cannabidiol in children and adults with treatment‐resistant epilepsies: Expanded access program results Open

Jerzy P. Szaflarski, E. Martina Bebin, Anne M. Comi, Anup D. Patel, Charuta Joshi , et al. · 2018

Summary Objective Since 2014, cannabidiol ( CBD ) has been administered to patients with treatment‐resistant epilepsies ( TREs ) in an ongoing expanded‐access program ( EAP ). We report interim results on the safety and efficacy of CBD in …

Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes Open

Orrin Devinsky, Chloe Verducci, Elizabeth A. Thiele, Linda Laux, Anup D. Patel , et al. · 2018

This open-label drug trial provides class III evidence for the long-term safety and efficacy of CBD administration in patients with treatment-resistant epilepsy (TRE) associated with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose…

Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome Open

Orrin Devinsky, Anup D. Patel, Elizabeth A. Thiele, Matthew H. Wong, Richard Appleton , et al. · 2018

This study provides Class I evidence that for children with Dravet syndrome, CBD resulted in more AEs than placebo but was generally well-tolerated.

Severe peri-ictal respiratory dysfunction is common in Dravet syndrome Open

YuJaung Kim, Eduardo Bravo, Caitlin K. Thirnbeck, Lori A. Smith-Mellecker, Se Hee Kim , et al. · 2018

Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. Patients with DS have a high risk of sudden unexplained death in epilepsy (SUDEP), widely believed to be due to cardiac m…

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome Open

Orrin Devinsky, J. Helen Cross, Linda Laux, Eric D. Marsh, Ian Miller , et al. · 2017

Among patients with the Dravet syndrome, cannabidiol resulted in a greater reduction in convulsive-seizure frequency than placebo and was associated with higher rates of adverse events. (Funded by GW Pharmaceuticals; ClinicalTrials.gov num…

Screening of conventional anticonvulsants in a genetic mouse model of epilepsy Open

Nicole A. Hawkins, Lyndsey L. Anderson, Tracy S. Gertler, Linda Laux, Alfred L. George , et al. · 2017

Objective Epilepsy is a common neurological disorder that affects 1% of the population. Approximately, 30% of individuals with epilepsy are refractory to treatment, highlighting the need for novel therapies. Conventional anticonvulsant scr…

Phenotypes of Dravet Syndrome Open

Rebecca Garcia‐Sosa, Linda Laux · 2016

Researchers from the University of Washington in Seattle studied selective heterozygous and homozygous deletions of the voltage gated sodium channel (Nav1.1) in parvalbumin (PV) or somato-statin (SST) expressing interneurons.

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