ArticleNeurology2012
PRRT2 mutations cause hemiplegic migraine.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 129 citations in OpenAlex.
- Effectiveness and safety of anti-CGRP monoclonal antibodies in hemiplegic migraine: an individual patient quantitative analysis.The journal of headache and pain · 2026Pooled it
- Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.Biomedicines · 2026Article
- Clinical and genetic analysis of PRRT2 gene mutations in a cohort of 21 pediatric patients: a case series.Frontiers in pediatrics · 2026Article
- Current Trends in Management of Migraine: A Review of Current Practice and Recent Advances.CNS & neurological disorders drug targets · 2026Review
- Glutamate as a Therapeutic Substrate in Migraine.International journal of molecular sciences · 2025Review
- The link between spreading depolarization and innate immunity in the central nervous system.The journal of headache and pain · 2025Review
- Clinical characterization of a novelBrain communications · 2025Article
- Review
- Migraine - a borderland disease to epilepsy: near it but not of it.The journal of headache and pain · 2024Review
- Hemiplegic Migraine in Children and Adolescents.Journal of clinical medicine · 2023Review
- Pain-causing stinging nettle toxins target TMEM233 to modulate NaNature communications · 2023Article
- Genetics of migraine: where are we now?The journal of headache and pain · 2023Review
- Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome-sequenced UK Biobank participants.Annals of human genetics · 2022Article
- CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.The journal of headache and pain · 2021Article
- Spreading depression as an innate antiseizure mechanism.Nature communications · 2021Article
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- Exploring the Hereditary Nature of Migraine.Neuropsychiatric disease and treatment · 2021Review
- The Spectrum ofFrontiers in neurology · 2021Review
- The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.Biomedicines · 2020Article
- Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveHemiplegic migraine (HM) is a rare subtype of migraine with aura that occurs as a familial or sporadic condition. The 3 culprit genes identified so far do not account for all familial forms of HM. PRRT2 mutations have recently been shown to cause various childhood-onset episodic syndromes including paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome, and benign familial infantile epilepsy. Our objective was to test the possible implication of PRRT2 in HM, another episodic disorder with early onset in most cases.
methodsThe whole genomic coding region of PRRT2 was sequenced in 101 index cases with HM that started before age 20 years and for whom no mutation was found in the 3 known HM genes. Affected relatives of mutated patients were analyzed when available.
resultsPRRT2 mutations were identified in 4 patients: the previously reported c.649dupC mutation was found in 2 cases, and a novel mutation, c.649delC, was found in the other 2. One patient with mutation subsequently developed paroxysmal dyskinesia, as well as generalized epileptic seizures.
conclusionsPRRT2 mutations can occasionally cause HM. This underscores the complexity of the phenotypic consequences of PRRT2 mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.