Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
Objective To identify novel epilepsy genes using a panel approach and describe the
functional consequences of mutations. Methods Using a panel approach, we screened 357 …
functional consequences of mutations. Methods Using a panel approach, we screened 357 …
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
KM Johannesen, Y Liu, M Koko, CE Gjerulfsen… - Brain, 2022 - academic.oup.com
We report detailed functional analyses and genotype-phenotype correlations in 392
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …
[HTML][HTML] Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised …
FJK O'Callaghan, SW Edwards, FD Alber… - The Lancet Child & …, 2018 - thelancet.com
Background Infantile spasms constitute a severe form of epileptic encephalopathy. In the
International Collaborative Infantile Spasms Study (ICISS), we showed that combining …
International Collaborative Infantile Spasms Study (ICISS), we showed that combining …
PRRT2 Mutations are the major cause of benign familial infantile seizures
J Schubert, R Paravidino, F Becker, A Berger… - Human …, 2012 - Wiley Online Library
Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and
infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in …
infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in …
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the …
A Strzelczyk, J Grau, T Bast, A Bertsche… - Expert Review of …, 2021 - Taylor & Francis
Objective Seizures are a primary and early disease manifestation of Tuberous Sclerosis
Complex (TSC). We aimed to describe the age-stratified patterns of antiseizure drug (ASD) …
Complex (TSC). We aimed to describe the age-stratified patterns of antiseizure drug (ASD) …
[HTML][HTML] Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
J Lotte, T Bast, P Borusiak, A Coppola, JH Cross… - Seizure, 2016 - Elsevier
Purpose PCDH19 mutations cause epilepsy and mental retardation limited to females
(EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be …
(EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be …
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
S Syrbe, FL Harms, E Parrini, M Montomoli, U Mütze… - Brain, 2017 - academic.oup.com
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-
erythrocyte αII spectrin, have been associated with severe West syndrome with …
erythrocyte αII spectrin, have been associated with severe West syndrome with …
[HTML][HTML] Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study …
M Maltseva, S Schubert-Bast, JP Zöllner, T Bast… - Orphanet journal of rare …, 2023 - Springer
Background This study measured sleep quality among caregivers of patients with Dravet
syndrome (DS) and assessed the impacts of mental health problems and caregiver burden …
syndrome (DS) and assessed the impacts of mental health problems and caregiver burden …
[HTML][HTML] Efficacy, retention and tolerability of everolimus in patients with tuberous sclerosis complex: a survey-based study on patients' perspectives
LM Willems, F Rosenow, S Schubert-Bast… - CNS drugs, 2021 - Springer
Background The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013),
subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients …
subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients …