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List of works by Eva Brilstra

1-14 of 14 results

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

scientific article
The phenotypic spectrum of SCN8A encephalopathy

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

scientific article published on 4 March 2017
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017
The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018
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
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

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