Related Experiment Video
Updated: May 17, 2026
Repeated Transcranial Magnetic Stimulation Combined with Action Observation Training in Children with Spastic Cerebral Palsy
Published on: August 9, 2024
PRRT2 mutations cause hemiplegic migraine
Florence Riant1, Emmanuel Roze, Cecile Barbance
1Groupe Hospitalier Lariboisière-Fernand Widal, Laboratoire de Génétique, Paris. florence.riant@lrb.aphp.fr
Objective:
Hemiplegic 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.
Methods:
The 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.
Results:
PRRT2 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.
Conclusions:
PRRT2 mutations can occasionally cause HM. This underscores the complexity of the phenotypic consequences of PRRT2 mutations.
Insights
Mutations in the PRRT2 gene can occasionally cause hemiplegic migraine (HM), a rare migraine subtype. This finding expands the known spectrum of PRRT2-related disorders, highlighting its role in early-onset neurological conditions.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Hemiplegic migraine (HM) is a rare migraine subtype with aura, presenting as familial or sporadic.
- Existing genetic research has identified three genes for familial HM, but these do not explain all cases.
- PRRT2 mutations are linked to various childhood-onset episodic syndromes, including paroxysmal kinesigenic dyskinesia and epilepsy.
Purpose of the Study:
- To investigate the potential role of PRRT2 gene mutations in hemiplegic migraine.
- To explore PRRT2 as a candidate gene for HM, particularly in early-onset cases.
Main Methods:
- Sequenced the entire coding region of the PRRT2 gene in 101 patients with early-onset HM.
- Excluded patients with mutations in the three known HM genes.
- Analyzed affected relatives of patients with identified PRRT2 mutations.
Main Results:
- Identified PRRT2 mutations in 4 out of 101 index cases.
- Found previously reported c.649dupC mutation in two patients and a novel c.649delC mutation in two others.
- One patient with a PRRT2 mutation later developed paroxysmal dyskinesia and epileptic seizures.
Conclusions:
- PRRT2 mutations are an occasional cause of hemiplegic migraine.
- This finding broadens the phenotypic spectrum associated with PRRT2 mutations.
- Suggests PRRT2 as a gene to consider in the genetic diagnosis of early-onset HM.
More Related Videos
09:36Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
01:17Hemorrhagic Stroke l: Introduction
01:29Hemorrhagic Stroke ll: Pathophysiology
01:29Increased Intracranial Pressure ll: Pathophysiology