ArticleBiomedicines2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
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Article in Biomedicines, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21citing papers in PubMed
3.8field-weighted citation impact, top 5% of its field
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients WithHuman mutation · 2026Article
- [Management of postoperative complications in dermatologic surgery].Dermatologie (Heidelberg, Germany) · 2025Review
- Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.Journal of clinical medicine · 2025Review
- Article
- Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.Journal of neurochemistry · 2024Review
- Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.European journal of human genetics : EJHG · 2024Article
- A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.Molecular genetics & genomic medicine · 2024Article
- Three siblings with self-limited familial infantile epilepsy withSAGE open medical case reports · 2024Article
- A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.Case reports in pediatrics · 2024Article
- Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy.BMC pediatrics · 2023Article
- PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.Epilepsia open · 2023Article
- Clinical and genetic analysis of benign familial infantile epilepsy caused byFrontiers in neurology · 2023Article
- Developmental and epileptic encephalopathies - therapeutic consequences of genetic testing.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Efficacy, Tolerability, and Retention of Antiseizure Medications inNeurology. Genetics · 2022Article
- Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.Frontiers in neurology · 2022Review
- Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.Frontiers in neurology · 2022Article
- A Review of Targeted Therapies for Monogenic Epilepsy Syndromes.Frontiers in neurology · 2022Review
- Refining Genotypes and Phenotypes inInternational journal of molecular sciences · 2021Article
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.Frontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
39 authors at 20 institutions in 4 countries.
Jan Henje DöringDivision of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Afshin SaffariDivision of Paediatric Neurology and Metabolic Medicince, Centre for Paediatric and Adolescent Medicine, University Hospital, 69120 Heidelberg, Germany.
Thomas BastEpilepsy Center Kork, Medical Faculty of the University of Freiburg, 77694 Kehl, Germany.
Knut BrockmannInterdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Children's Hospital, University Medical Center, 37075 Göttingen, Germany.ORCID 0000-0001-6823-9091
Laura EhrhardtDepartment of Pediatrics, University Medicine Mainz, 55131 Mainz, Germany.
Walid FazeliPediatric Neurology, Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.ORCID 0000-0002-9425-5535
Wibke G JanzarikDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Gerhard KlugerClinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, 83569 Vogtareuth, Germany.
Hiltrud MuhleDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, 24105 Kiel, Germany.
Rikke S MøllerDanish Epilepsy Centre, 4293 Dianalund, Denmark.ORCID 0000-0002-9664-1448
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Joana Larupa SantosWilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.ORCID 0000-0002-0690-7741
Iben BacheDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet and Department of Cellular and Molecular Medicine, University of Copenhagen, 2100 Copenhagen, Denmark.
Astrid BertscheCentre for Paediatric Research, University Hospital for Children and Adolescents, 04103 Leipzig, Germany.
Michaela BonfertDepartment of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337 Munich, Germany.
Ingo BorggräfeDepartment of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337 Munich, Germany.
Philip J BroserNeuropädiatrie, Ostschweizer Kinderspital, 9006 St. Gallen, Switzerland.
Alexandre N DattaUniversity Children's Hospital Basel, 4031 Basel, Switzerland.
Trine Bjørg HammerDanish Epilepsy Centre, 4293 Dianalund, Denmark.
Hans HartmannHannover Medical School, Clinic for Pediatric Kidney, Liver and Metabolic Diseases, 30625 Hannover, Germany.
Anette Hasse-WittmerKlinikum Traunstein, 83278 Traunstein, Germany.
Marco HennekeDepartment of Pediatrics and Adolescent Medicine, University Medical Center, Georg August University, 37075 Göttingen, Germany.
Hermann KühneChildren's Hospital, 84503 Alt-Neuötting, Germany.
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Oliver MaierDepartment of Child Neurology, Children's Hospital, 9006 St. Gallen, Switzerland.
Eva MatzkerNeuropädiatrie, Carl-Thiem-Klinikum Cottbus, 03048 Cottbus, Germany.
Andreas MerkenschlagerDepartment of Neuropediatrics, University Hospital of Children, 04103 Leipzig, Germany.
Joachim OppChildren's Hospital, 46047 Oberhausen, Germany.
Steffi PatzerHospital St. Elizabeth and St. Barbara, 06110 Halle, Germany.
Kevin RostasyDepartment of Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, 45711 Datteln, Germany.
Birgit StarkKepler Universitätsklinikum, 4020 Linz, Austria.
Adam StrzelczykDepartment of Neurology and Epilepsy Center Frankfurt Rhine-Main, Goethe University Frankfurt, 60528 Frankfurt am Main, Germany.
Celina von StülpnagelDepartment of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337 Munich, Germany.
Yvonne WeberDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Markus WolffDepartment of Pediatric Neurology, Vivantes Hospital Neukölln, 12351 Berlin, Germany.
Birgit ZirnGenetic Counselling and Diagnostic, Genetikum Stuttgart, 70173 Stuttgart, Germany.
Georg Friedrich HoffmannDivision of Paediatric Neurology and Metabolic Medicince, Centre for Paediatric and Adolescent Medicine, University Hospital, 69120 Heidelberg, Germany.
Stefan KölkerDivision of Paediatric Neurology and Metabolic Medicince, Centre for Paediatric and Adolescent Medicine, University Hospital, 69120 Heidelberg, Germany.
Steffen SyrbeDivision of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Heidelberg University · DELeipzig University · DELudwig-Maximilians-Universität München · DEUniversity Hospital Leipzig · DEUniversity of Copenhagen · DKUniversity of Freiburg · DECarl-Thiem-Klinikum Cottbus · DEChristian-Albrechts-Universität zu Kiel · DEEvangelisches Krankenhaus Oberhausen · DEGenetikum · DEGoethe University Frankfurt · DEHertie Institute for Clinical Brain Research · DEJohannes Gutenberg University Mainz · DEKepler Universitätsklinikum · ATKrankenhaus St. Elisabeth und St. Barbara · DEMedizinische Hochschule Hannover · DEOstschweizer Kinderspital · CHParacelsus Medical University · ATSchön Klinik Vogtareuth · DEUniversity Children’s Hospital Basel · CH
Funding
Dietmar Hopp Stiftung 1DH1813319
Abstract
Pathogenic variants in
Indexed as
BFISfamilial infantile epilepsyhemiplegic migrainephenotypic spectrumPKDPKD/ICPRRT2
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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.