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List of works by Sarah von Spiczak

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

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

scientific article published on 28 February 2019

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

scientific article

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 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.

scientific article

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

scientific article

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

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

scientific article

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

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