# Peter De Jonghe

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/peter-de-jonghe/

## Facts

| Field | Value |
| --- | --- |
| Citations | 37,236 |
| Field | Hereditary Neurological Disorders |
| h-index | 101 |
| i10-index | 312 |
| Last Known Institution | University of Antwerp |
| OpenAlex ID | https://openalex.org/A5107842217 |
| Works | 619 |

## Researcher papers

- [De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy](https://scholariq.org/papers/de-novo-mutations-in-the-sodium-channel-gene-scn1a-cause-severe-myoclonic/)
- [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](https://scholariq.org/papers/a-c9orf72-promoter-repeat-expansion-in-a-flanders-belgian-cohort-with-disorders/)
- [Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders](https://scholariq.org/papers/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a/)
- [<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy](https://scholariq.org/papers/i-kcnq2-i-encephalopathy-emerging-phenotype-of-a-neonatal-epileptic/)
- [Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies](https://scholariq.org/papers/genome-wide-mega-analysis-identifies-16-loci-and-highlights-diverse-biological/)
- [Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes](https://scholariq.org/papers/mutations-in-grin2a-cause-idiopathic-focal-epilepsy-with-rolandic-spikes/)
- [De novo variants in neurodevelopmental disorders with epilepsy](https://scholariq.org/papers/de-novo-variants-in-neurodevelopmental-disorders-with-epilepsy/)
- [Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals](https://scholariq.org/papers/ultra-rare-genetic-variation-in-the-epilepsies-a-whole-exome-sequencing-study-of/)
- [Mutations in SEPT9 cause hereditary neuralgic amyotrophy](https://scholariq.org/papers/mutations-in-sept9-cause-hereditary-neuralgic-amyotrophy/)
- [The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter](https://scholariq.org/papers/the-c9orf72-repeat-size-correlates-with-onset-age-of-disease-dna-methylation-and/)
- [Loss of <i>TBK1</i> is a frequent cause of frontotemporal dementia in a Belgian cohort](https://scholariq.org/papers/loss-of-i-tbk1-i-is-a-frequent-cause-of-frontotemporal-dementia-in-a-belgian/)
- [Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32](https://scholariq.org/papers/genome-wide-association-analysis-of-genetic-generalized-epilepsies-implicates/)

## Researcher topics

- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)
- [Neurological diseases and metabolism](https://scholariq.org/topics/neurological-diseases-and-metabolism/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)

## Researcher university

- [University of Antwerp](https://scholariq.org/institutions/university-of-antwerp/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.