List of works - Sarah Weckhuysen

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations

scientific article

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

scientific article published on 01 December 2018

Assessing the landscape of STXBP1-related disorders in 534 individuals

scientific article published on 01 June 2022

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

scientific article published in Nature Communications

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

scientific article published on 21 March 2017

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

scientific article published on 10 September 2020

Clinical presentation of epilepsy in six villages in an onchocerciasis endemic area in Mahenge, Tanzania

scientific article published on 01 October 2019

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

scientific article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

scientific article published in September 2010

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

scientific article published on 9 May 2014

DEPDC5-Related Epilepsy

scientific article

De novo Variants In Neurodevelopmental Disorders With Epilepsy

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

scientific article

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

scientific article

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

scientific article

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

scientific article published on 29 June 2016

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Depdc5 knockout rat: A novel model of mTORopathy

scientific article published on 9 February 2016

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

scientific article published on 23 August 2019

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

scientific article published in May 2015

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

scientific article published on 10 April 2018

Duplications of 17q12 can cause familial fever-related epilepsy syndromes

scientific article published on 18 September 2013

Early and effective treatment of KCNQ2 encephalopathy.

scientific article

Epilepsy: old syndromes, new genes

scientific article published on June 2014

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

scientific article

Gene family information facilitates variant interpretation and identification of disease-associated genes

article

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

scientific article published on 17 March 2016

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

scientific article published on 4 March 2017

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

scientific article published on 14 December 2019

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

scientific article

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

scientific article published on 31 October 2016

Head stereotypies in STXBP1 encephalopathy

scientific article

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Ictal perfusion patterns associated with single MRI-visible focal dysplastic lesions: implications for the noninvasive delineation of the epileptogenic zone

scientific article published in September 2006

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

scientific article

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

scientific article

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

scientific article published on 22 August 2016

KCNQ3-Related Disorders

Lessons learned from gene identification studies in Mendelian epilepsy disorders.

scientific article

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

scientific article published on 19 July 2016

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

scientific journal article

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

scientific article published on 30 January 2020

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

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

scientific article published on 2 November 2014

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

scientific article

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

scientific article

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

scientific article

Novel GABRG2 mutations cause familial febrile seizures

scientific article published on 4 November 2015

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

scientific article

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

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

article

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

scientific article published on 02 December 2019

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

scientific article

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

scientific article published in April 2017

Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update

scientific article published on 13 October 2020

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

scientific article published on 14 February 2013

Reply

STXBP1 as a therapeutic target for epileptic encephalopathy

scientific article published on 3 October 2017

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

scientific article published on 10 February 2016

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

scientific article published on 20 June 2019

STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a

scientific article published on 3 April 2014

Schizophrenia-Associated MIR204 Regulates Noncoding RNAs and Affects Neurotransmitter and Ion Channel Gene Sets

scientific article published on 29 December 2015

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific journal article

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific article published in December 2017

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

scientific article published on 30 July 2016

The phenotypic spectrum of SCN8A encephalopathy

scientific article

The therapeutic potential of RNA regulation in neurological disorders

scientific article published on 31 October 2018

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene

scientific article published on 15 January 2020

Treatment Responsiveness in KCNT1-Related Epilepsy

scientific article published on 01 July 2019

Women with epilepsy in sub-Saharan Africa: A review of the reproductive health challenges and perspectives for management

scientific article published on 06 September 2019

List of works by Sarah Weckhuysen

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Assessing the landscape of STXBP1-related disorders in 534 individuals

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

Clinical presentation of epilepsy in six villages in an onchocerciasis endemic area in Mahenge, Tanzania

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Clinical spectrum of STX1B-related epileptic disorders.

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Correction: The landscape of epilepsy-related GATOR1 variants

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

DEPDC5-Related Epilepsy

De novo Variants In Neurodevelopmental Disorders With Epilepsy

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

De novo variants in neurodevelopmental disorders with epilepsy

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Depdc5 knockout rat: A novel model of mTORopathy

Diagnostic implications of genetic copy number variation in epilepsy plus

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Duplications of 17q12 can cause familial fever-related epilepsy syndromes

Early and effective treatment of KCNQ2 encephalopathy.

Epilepsy: old syndromes, new genes

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

Gene family information facilitates variant interpretation and identification of disease-associated genes

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

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

Genetic heterogeneity in infantile spasms

Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Head stereotypies in STXBP1 encephalopathy

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ictal perfusion patterns associated with single MRI-visible focal dysplastic lesions: implications for the noninvasive delineation of the epileptogenic zone

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

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

KCNQ3-Related Disorders

Lessons learned from gene identification studies in Mendelian epilepsy disorders.

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

Novel GABRG2 mutations cause familial febrile seizures

PRRT2 mutations: exploring the phenotypical boundaries.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Pitfalls in genetic testing: the story of missed SCN1A mutations

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

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Reply

STXBP1 as a therapeutic target for epileptic encephalopathy

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a

Schizophrenia-Associated MIR204 Regulates Noncoding RNAs and Affects Neurotransmitter and Ion Channel Gene Sets

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy