ArticleNeurology2012
PRRT2 links infantile convulsions and paroxysmal dyskinesia with 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 33 papers.
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33 citing papers in PubMed, 91 citations in OpenAlex.
- Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.Journal of human genetics · 2018Trial
- Clinical and genetic analysis of PRRT2 gene mutations in a cohort of 21 pediatric patients: a case series.Frontiers in pediatrics · 2026Article
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- Genetics of migraine: where are we now?The journal of headache and pain · 2023Review
- Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.Neurogenetics · 2021Article
- Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.Translational neurodegeneration · 2021Review
- The Spectrum ofFrontiers in neurology · 2021Review
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.Brain and behavior · 2020Article
- Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics.Frontiers in neurology · 2020Review
- GRIN2A: involvement in movement disorders and intellectual disability without seizures.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.Frontiers in neuroscience · 2019Article
- Functional and Structural Network Disorganizations in Typical Epilepsy With Centro-Temporal Spikes and Impact on Cognitive Neurodevelopment.Frontiers in neurology · 2019Review
- Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia.Frontiers in neurology · 2018Article
- Diagnosis and Treatment of Childhood Migraine.Current treatment options in neurology · 2016Review
- Article
- A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.The Journal of biological chemistry · 2016Article
- Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.Molecular neurobiology · 2016Article
- The clinical and genetic heterogeneity of paroxysmal dyskinesias.Brain : a journal of neurology · 2015Review
- Treatment of paroxysmal dyskinesias in children.Current treatment options in neurology · 2015Article
- Diagnosis and treatment of chorea syndromes.Current neurology and neuroscience reports · 2015Review
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21 authors at 5 institutions in 3 countries.
Funding
Abstract
objectiveWhole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported. In order to explore the mutational and clinical spectra, we analyzed 34 additional families with either typical PKD/IC or PKD/IC with migraine.
methodsWe performed Sanger sequencing of all PRRT2 coding exons and of exon-intron boundaries in the probands and in their relatives whenever appropriate.
resultsTwo known and 2 novel PRRT2 mutations were detected in 18 families. The p.R217Pfs*8 recurrent mutation was found in ≈50% of typical PKD/IC, and the unreported p.R145Gfs*31 in one more typical family. PRRT2 mutations were also found in PKD/IC with migraine: p.R217Pfs*8 cosegregated with PKD associated with HM in one family, and was also detected in one IC patient having migraine with aura, in related PKD/IC familial patients having migraine without aura, and in one sporadic migraineur with abnormal MRI. Previously reported p.R240X was found in one patient with PKD with migraine without aura. The novel frameshift p.S248Afs*65 was identified in a PKD/IC family member with IC and migraine with aura.
conclusionsWe extend the spectrum of PRRT2 mutations and phenotypes to HM and to other types of migraine in the context of PKD/IC, and emphasize the phenotypic pleiotropy seen in patients with 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.