List of works - Peter De Jonghe

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

scientific article

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease

scientific article

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

scientific article published on 27 October 2011

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

scientific article

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

scientific article published on 13 February 2017

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

scientific article published on 15 December 2015

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

scientific article

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

scientific article

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

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 variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine ⬇️

scientific article published on August 23, 2010

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

scientific article

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

scientific article published in March 2013

Do mutations in SCN1B cause Dravet syndrome?

scientific article

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

scientific article

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

scientific article

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

scientific article published in September 2009

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

scientific article

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

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 variant in the HSPB1 promoter region impairs the HSP27 stress response

scientific article

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

scientific article published on 09 May 2011

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

scientific article

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

scientific article

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

scientific article (publication date: November 2003)

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

scientific article

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

scientific article published on 21 December 2016

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

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 TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

scientific article

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

scientific article

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

scientific article

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

scientific journal article

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

scientific article

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

scientific article published on 25 March 2016

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

scientific article

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

scientific article

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

scientific article

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

scientific article

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

scientific article

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

scientific article

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

scientific article

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

scientific article (publication date: March 2003)

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

scientific article (publication date: March 2005)

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

scientific article

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

scientific article

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

scientific article

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

scientific article

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

article

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

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

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

scientific article

SCN1A testing for epilepsy: application in clinical practice.

scientific article published on 15 April 2013

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

scientific article

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

scientific journal article

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

scientific article

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

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

scientific article published on 30 July 2016

The genetics of Dravet syndrome.

scientific article published on April 2011

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Treatment for Charcot-Marie-Tooth disease

scientific article

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

scientific article published on 18 September 2014

List of works by Peter De Jonghe

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Analysis of shared heritability in common disorders of the brain

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

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

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

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

De novo variants in neurodevelopmental disorders with epilepsy

Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine ⬇️

Diagnostic implications of genetic copy number variation in epilepsy plus

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

Do mutations in SCN1B cause Dravet syndrome?

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

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

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

Genetic heterogeneity in infantile spasms

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

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

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

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 TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

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

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

PRRT2 mutations: exploring the phenotypical boundaries.

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

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

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

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

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

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.

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

SCN1A testing for epilepsy: application in clinical practice.

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

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

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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

The genetics of Dravet syndrome.

Transcriptional regulator PRDM12 is essential for human pain perception

Treatment for Charcot-Marie-Tooth disease

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach