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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

scientific article published on 27 June 2019

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

artículo científico publicado en 2019

Counseling and social work for people with epilepsy in Germany: A cross-sectional multicenter study on demand, frequent content, patient satisfaction, and burden-of-disease

artículo científico publicado en 2019

De novo variants in neurodevelopmental disorders with epilepsy

artículo científico publicado en 2018

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

artículo científico publicado en 2016

Intrauterine total percutaneous fetoscopic repair of myelomeningocele: 30 months follow up data

artículo científico publicado en 2020

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians

artículo científico publicado en 2016

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

artículo científico publicado el 25 de enero de 2013

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

artículo científico publicado en 2015

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