Literature DB >> 27264138

Treatment of Dravet Syndrome.

Elaine C Wirrell1.   

Abstract

Dravet syndrome is among the most challenging electroclinical syndromes. There is a high likelihood of recurrent status epilepticus; seizures are medically refractory; and patients have multiple co-morbidities, including intellectual disability, behaviour and sleep problems, and crouch gait. Additionally, they are at significant risk of sudden unexplained death. This review will focus predominantly on the prophylactic medical management of seizures, addressing both first-line therapies (valproate and clobazam) as well as second-line (stiripentol, topiramate, ketogenic diet) or later options (levetiracetam, bromides, vagus nerve stimulation). Sodium channel agents-including carbamazepine, oxcarbazepine, phenytoin and lamotrigine-should be avoided, as they typically exacerbate seizures. Several agents in development may show promise, specifically fenfluramine and cannabidiol, but they need further evaluation in randomized, controlled trials. In addition to prophylactic treatment, all patients need home-rescue medication and a status epilepticus protocol that can be carried out in their local hospital. Families must be counselled on non-pharmacologic strategies to reduce seizure risk, including avoidance of triggers that commonly induce seizures (including hyperthermia, flashing lights and patterns). In addition to addressing seizures, holistic care for a patient with Dravet syndrome must involve a multidisciplinary team that includes specialists in physical, occupational and speech therapy, neuropsychology, social work and physical medicine.

Entities:  

Keywords:  Antiepileptic drug; Dravet syndrome; ketogenic diet; stiripentol

Mesh:

Substances:

Year:  2016        PMID: 27264138     DOI: 10.1017/cjn.2016.249

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN: 0317-1671            Impact factor:   2.104


  31 in total

1.  Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome.

Authors:  David A Dyment; Sarah C Schock; Kristen Deloughery; Minh Hieu Tran; Kerstin Ure; Lauryl M J Nutter; Amie Creighton; Julie Yuan; Umberto Banderali; Tanya Comas; Ewa Baumann; Anna Jezierski; Kym M Boycott; Alex E Mackenzie; Marzia Martina
Journal:  Genetics       Date:  2020-06-17       Impact factor: 4.562

Review 2.  The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Authors:  Davide Mei; Elena Parrini; Carla Marini; Renzo Guerrini
Journal:  Mol Diagn Ther       Date:  2017-08       Impact factor: 4.074

Review 3.  Cannabis effects on brain structure, function, and cognition: considerations for medical uses of cannabis and its derivatives.

Authors:  Alison C Burggren; Anaheed Shirazi; Nathaniel Ginder; Edythe D London
Journal:  Am J Drug Alcohol Abuse       Date:  2019-07-31       Impact factor: 3.829

4.  Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.

Authors:  Renée A Shellhaas; Anne T Berg; Zachary M Grinspan; Courtney J Wusthoff; John J Millichap; Tobias Loddenkemper; Jason Coryell; Russell P Saneto; Catherine J Chu; Sucheta M Joshi; Joseph E Sullivan; Kelly G Knupp; Eric H Kossoff; Cynthia Keator; Elaine C Wirrell; John R Mytinger; Ignacio Valencia; Shavonne Massey; William D Gaillard
Journal:  Pediatr Neurol       Date:  2017-06-27       Impact factor: 3.372

5.  Case studies in neuroscience: a novel amino acid duplication in the NH2-terminus of the brain sodium channel NaV1.1 underlying Dravet syndrome.

Authors:  Madeline Angus; Colin H Peters; Damon Poburko; Elise Brimble; Emily M Spelbrink; Peter C Ruben
Journal:  J Neurophysiol       Date:  2019-09-18       Impact factor: 2.714

6.  Mutations in SCN3A cause early infantile epileptic encephalopathy.

Authors:  Tariq Zaman; Ingo Helbig; Ivana Babić Božović; Suzanne D DeBrosse; A Christina Bergqvist; Kimberly Wallis; Livija Medne; Aleš Maver; Borut Peterlin; Katherine L Helbig; Xiaohong Zhang; Ethan M Goldberg
Journal:  Ann Neurol       Date:  2018-03-30       Impact factor: 10.422

Review 7.  Current Treatment Strategies and Future Treatment Options for Dravet Syndrome.

Authors:  Julie Ziobro; Krista Eschbach; Joseph E Sullivan; Kelly G Knupp
Journal:  Curr Treat Options Neurol       Date:  2018-10-13       Impact factor: 3.598

Review 8.  Progress in Understanding and Treating SCN2A-Mediated Disorders.

Authors:  Stephan J Sanders; Arthur J Campbell; Jeffrey R Cottrell; Rikke S Moller; Florence F Wagner; Angie L Auldridge; Raphael A Bernier; William A Catterall; Wendy K Chung; James R Empfield; Alfred L George; Joerg F Hipp; Omar Khwaja; Evangelos Kiskinis; Dennis Lal; Dheeraj Malhotra; John J Millichap; Thomas S Otis; Steven Petrou; Geoffrey Pitt; Leah F Schust; Cora M Taylor; Jennifer Tjernagel; John E Spiro; Kevin J Bender
Journal:  Trends Neurosci       Date:  2018-04-23       Impact factor: 13.837

9.  Disordered autonomic function during exposure to moderate heat or exercise in a mouse model of Dravet syndrome.

Authors:  Nikhil Sahai; Angela M Bard; Orrin Devinsky; Franck Kalume
Journal:  Neurobiol Dis       Date:  2020-11-02       Impact factor: 5.996

10.  dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.

Authors:  Gaia Colasante; Gabriele Lignani; Simone Brusco; Claudia Di Berardino; Jenna Carpenter; Serena Giannelli; Nicholas Valassina; Simone Bido; Raffaele Ricci; Valerio Castoldi; Silvia Marenna; Timothy Church; Luca Massimino; Giuseppe Morabito; Fabio Benfenati; Stephanie Schorge; Letizia Leocani; Dimitri M Kullmann; Vania Broccoli
Journal:  Mol Ther       Date:  2019-09-03       Impact factor: 11.454

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.