A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf–Hirschhorn syndrome

[1]  N. Delanty,et al.  Genomics-Guided Precise Anti-Epileptic Drug Development , 2017, Neurochemical Research.

[2]  M. Brodie.  Sodium Channel Blockers in the Treatment of Epilepsy , 2017, CNS Drugs.

[3]  Robert S Fisher,et al.  The New Classification of Seizures by the International League Against Epilepsy 2017 , 2017, Current Neurology and Neuroscience Reports.

[4]  E. Wirrell,et al.  Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. , 2017, Pediatric Neurology.

[5]  A. Vignoli,et al.  Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome , 2017, Epilepsy & Behavior.

[6]  S. Hirose,et al.  Two mild cases of Dravet syndrome with truncating mutation of SCN1A , 2017, Brain and Development.

[7]  E. Wassman,et al.  A case for cannabidiol in Wolf–Hirschhorn syndrome seizure management , 2016, American journal of medical genetics. Part A.

[8]  A. Wilfong,et al.  Long-term treatment of epilepsy with everolimus in tuberous sclerosis , 2016, Neurology.

[9]  J. French,et al.  Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study , 2016, The Lancet.

[10]  Ronald L Thibert,et al.  Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital , 2016, Epilepsy & Behavior.

[11]  Colin A. Johnson,et al.  Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. , 2016, American journal of human genetics.

[12]  H. Kurahashi,et al.  Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes , 2016, Brain and Development.

[13]  A. Battaglia,et al.  Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome , 2016, Journal of Medical Genetics.

[14]  David B Goldstein,et al.  Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies , 2015, Current Neurology and Neuroscience Reports.

[15]  Y. Vergouwe,et al.  Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs , 2015, Epilepsia.

[16]  P. Striano,et al.  Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum , 2015, Neurobiology of Disease.

[17]  Ana Mingorance-Le Meur,et al.  The European patient with Dravet syndrome: Results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome , 2015, Epilepsy & Behavior.

[18]  K. Erdoğan,et al.  Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome , 2015, Child's Nervous System.

[19]  G. Holmes,et al.  What is more harmful, seizures or epileptic EEG abnormalities? Is there any clinical data? , 2014, Epileptic disorders : international epilepsy journal with videotape.

[20]  F. Duffy,et al.  Copy number variation plays an important role in clinical epilepsy , 2014, Annals of neurology.

[21]  S. Spence,et al.  A survey of seizures and current treatments in 15q duplication syndrome , 2014, Epilepsia.

[22]  O. Dulac,et al.  The pharmacologic treatment of Dravet syndrome , 2011, Epilepsia.

[23]  J. Duncan,et al.  Genotype–phenotype associations in SCN1A-related epilepsies , 2011, Neurology.

[24]  M. Goldenberg,et al.  Overview of drugs used for epilepsy and seizures: etiology, diagnosis, and treatment. , 2010, P & T : a peer-reviewed journal for formulary management.

[25]  Hiromi Hirata,et al.  Biogenesis of GPI-anchored proteins is essential for surface expression of sodium channels in zebrafish Rohon-Beard neurons to respond to mechanosensory stimulation , 2010, Development.

[26]  F. Gilliam,et al.  Seizure frequency in children with epilepsy: Factors influencing accuracy and parental awareness , 2009, Seizure.

[27]  A. Battaglia,et al.  Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients , 2009, Developmental medicine and child neurology.

[28]  B. Bourgeois,et al.  Debate: Does genetic information in humans help us treat patients? , 2008, Epilepsia.

[29]  P. Bolton,et al.  The Early Childhood Epilepsy Severity Scale (E-Chess) , 2008, Epilepsy Research.

[30]  E. Novotny,et al.  Lamotrigine Therapy of Epilepsy with Angelman's Syndrome , 2007, Epilepsia.

[31]  G. Neri,et al.  Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. , 2003, American journal of human genetics.

[32]  M. Ruggieri,et al.  Parental view of epilepsy in Angelman syndrome: a questionnaire study , 1998, Archives of disease in childhood.

[33]  E. Zackai,et al.  A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. , 1997, Human molecular genetics.

[34]  R. Scarinci,et al.  [Wolf-Hirschhorn syndrome]. , 1985, La Pediatria medica e chirurgica : Medical and surgical pediatrics.