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List of works by Eva Brilstra

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

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

scientific article

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

The phenotypic spectrum of SCN8A encephalopathy

scientific article

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