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Lista de obras de Sarah von Spiczak

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

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

artículo científico publicado en 2019

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

artículo científico publicado en 2013

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

artículo científico publicado en 2014

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

artículo científico publicado en 2015

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

artículo científico publicado en 2017

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

artículo científico publicado en 2009

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

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