Sarah von Spiczak (researcher)

author (P50)

Q34519312	15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Q93076237	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
Q92366677	Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany
Q24600816	De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
Q37725930	GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
Q92501258	Genetic heterogeneity in infantile spasms
Q29417109	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Q35186631	Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Q47778090	Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Q33569995	Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Q92995751	The spectrum of intermediate SCN8A-related epilepsy

Sarah von Spiczak