List of works - Helle Hjalgrim

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

A nonsense mutation in FMR1 causing fragile X syndrome ⬇️

scientific article published on January 26, 2011

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

scientific article

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

scientific article

Dysregulation of FOXG1 by ring chromosome 14.

scientific article published on 9 April 2015

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

scientific article

From unwitnessed fatality to witnessed rescue: Nonpharmacologic interventions in sudden unexpected death in epilepsy

scientific article

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

scientific article

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

scientific article published on 2 November 2014

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

Quantitative analysis of surface electromyography during epileptic and nonepileptic convulsive seizures

scientific article published on 02 June 2014

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

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

scientific article

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

scientific article

Standardized computer-based organized reporting of EEG: SCORE

scientific article published on 18 March 2013

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

scientific article

The phenotypic spectrum of SCN8A encephalopathy

scientific article

List of works by Helle Hjalgrim

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

A nonsense mutation in FMR1 causing fragile X syndrome ⬇️

Analysis of shared heritability in common disorders of the brain

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

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

Dysregulation of FOXG1 by ring chromosome 14.

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

From unwitnessed fatality to witnessed rescue: Nonpharmacologic interventions in sudden unexpected death in epilepsy

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Pitfalls in genetic testing: the story of missed SCN1A mutations

Quantitative analysis of surface electromyography during epileptic and nonepileptic convulsive seizures

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

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

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

Standardized computer-based organized reporting of EEG: SCORE

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

The phenotypic spectrum of SCN8A encephalopathy