ArticleAmerican journal of human genetics2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Erratum issuedOpen access · bronzeAbstract read
In one paragraph
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 74 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed, 3 pooled it
6.1field-weighted citation impact, top 3% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
74 citing papers in PubMed, 3 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Calcium channelopathies and intellectual disability: a systematic review.Orphanet journal of rare diseases · 2021Pooled it
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes.Journal of neurology · 2026Article
- Article
- The importance of genetic testing in managing developmental epileptic encephalopathy in resource-limited settings: a case report.Journal of medical case reports · 2026Article
- Characterization of Three Distinct Loss-of-Function Cav2.3 Variants.International journal of molecular sciences · 2026Article
- Movement Disorders in Developmental and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Building epigenetic risk scores of opioid use disorder: Insights from human postmortem brain data.Translational psychiatry · 2026Article
- Epimutation analysis reveals involvement of SLIT2/ROBO signaling pathway in painful diabetic neuropathy.Human genomics · 2026Article
- A novelFrontiers in medicine · 2026Article
- The Emerging Role of CACNA1E in Cancer: Molecular Mechanisms and Therapeutic Implications.Journal of Cancer · 2026Review
- Ion Channel-Targeting Toxins: Structural Mechanisms of Activation, Inhibition, and Therapeutic Potential.Toxins · 2025Review
- A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia.Cureus · 2025Article
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing.BMC genomics · 2025Article
- Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.PLoS genetics · 2025Article
- Unique signatures of highly constrained genes across publicly available genomic databases.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Inactivation of CaV1 and CaV2 channels.The Journal of general physiology · 2025Review
14 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
106 authors at 20 institutions in 13 countries.
Katherine L HelbigDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Robert J LauererDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Jacqueline C BahrDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Ivana A SouzaDepartment of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
Candace T MyersDivision of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
Betül UysalDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Niklas SchwarzDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Maria A GandiniDepartment of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
Sun HuangDepartment of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
Boris KerenAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme," 75013 Paris, France.
Cyril MignotAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme," 75013 Paris, France.
Alexandra AfenjarSorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, Département de Génétique et Embryologie Médicale, AP-HP, Hôpital d'Enfants Armand Trousseau, Centre de Référence des Déficits Intellectuels de Causes Rares, 75012 Paris, France.
Thierry Billette de VillemeurSorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, Service de Neuropédiatrie, AP-HP, Hôpital d'Enfants Armand Trousseau; Centre de Référence des Déficits Intellectuels de Causes Rares; Inserm U 1141, 75012 Paris, France.
Delphine HéronAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme," 75013 Paris, France.
Caroline NavaAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme," 75013 Paris, France.
Stéphanie ValenceAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme," 75013 Paris, France.
Julien BurattiAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme," 75013 Paris, France.
Christina R FagerbergDepartment of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; H.C. Andersen Children's Hospital, Odense University Hospital, 5000 Odense, Denmark.
Kristina P SoerensenDepartment of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
Maria KibaekDepartment of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
David A KoolenDepartment of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
Boudewijn GunningStichting Epilepsie Instellingen Nederland, 8025 Zwolle, the Netherlands.
H Jurgen SchelhaasDepartment of Neurology, Academic Center for Epileptology, Kempenhaeghe and Maastricht UMC, 5591 Heeze, the Netherlands.
Michael C KruerBarrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.
Jordana FoxBarrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.
Somayeh BakhtiariBarrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.
Randa JarrarBarrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.
Sergio Padilla-LopezBarrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.
Kristin LindstromDivision of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sheng Chih JinYale School of Medicine, New Haven, CT 06510, USA.
Xue ZengYale School of Medicine, New Haven, CT 06510, USA.
Kaya BilguvarYale School of Medicine, New Haven, CT 06510, USA.
Antigone PapavasileiouDepartment of Pediatric Neurology, Penteli Children's Hospital, 152 36 Athens, Greece.
Qinghe XingInstitute of Biomedical Science and Children's Hospital Fudan University, 201102 Shanghai, China.
Changlian ZhuPerinatal Center, Sahlgrenska Academy, Gothenburg University, 413 46 Gothenburg, Sweden; Hospital of Zhengzhou University, 450001 Zhengzhou, China.
Katja BoysenEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Filippo VairoDepartment of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.
Brendan C LanpherDepartment of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.
Eric W KleeDepartment of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.
Jan-Mendelt TillemaDepartment of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.
Eric T PayneDepartment of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Margot A CousinDepartment of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Teresa M KruisselbrinkCenter for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Myra J WickCenter for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Joshua BakerUniversity of Illinois Chicago College of Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA.
Eric HaanAdult Genetics Unit, Royal Adelaide Hospital, and School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.
Nicholas SmithDepartment of Neurology, Women's and Children's Hospital, University of Adelaide, North Adelaide, SA 5006, Australia.
Azita SadeghpourCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
Erica E DavisCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
Task Force for Neonatal Genomics
Mark A CorbettAdelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.
Alastair H MacLennanAdelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.
Jozef GeczAdelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.
Saskia BiskupCeGaT, 72076 Tübingen, Germany.
Eva GoldmannDepartment of Human Genetics, University of Tübingen, 72076 Tübingen, Germany.
Lance H RodanDivision of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02215, USA.
Elizabeth KichulaDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Eric SegalNortheast Regional Epilepsy Group, Hackensack University Medical Center, Hackensack, NJ 07601, USA.
Kelly E JacksonUniversity of Louisville, Louisville, KY 40292, USA.
Alexander AsamoahUniversity of Louisville, Louisville, KY 40292, USA.
David DimmockChildren's Hospital of Wisconsin, Milwaukee, WI 53226, USA.
Julie McCarrierChildren's Hospital of Wisconsin, Milwaukee, WI 53226, USA.
Lorenzo D BottoDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84113, USA.
Francis FillouxDivision of Pediatric Neurology, Departments of Pediatrics and Neurology, University of Utah, Salt Lake City, UT 84113, USA.
Tatiana TvrdikARUP Laboratories, Salt Lake City, UT 84108, USA.
Gregory D CascinoDepartment of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Sherry KlingermanDepartment of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Catherine NeumannDivision of Metabolic Disorders CHOC Children's Hospital, Orange, CA 92868, USA.
Raymond WangDivision of Metabolic Disorders CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92617, USA.
Jessie C JacobsenCentre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.
Melinda A NolanDepartment of Neurology, Starship Children's Health, Auckland 1023, New Zealand.
Russell G SnellCentre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.
Klaus LehnertCentre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.
Lynette G SadleirDepartment of Paediatrics and Child Health, University of Otago Wellington, Wellington South 6242, New Zealand.
Britt-Marie AnderlidDepartment of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 77 Stockholm, Sweden.
Malin KvarnungDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 171 77 Stockholm, Sweden.
Renzo GuerriniDepartment of Neuroscience, Azienda Ospedaliero-Universitaria Meyer, University of Florence, 50139 Florence, Italy.
Michael J FriezGreenwood Genetic Center, Greenwood, SC 29646, USA.
Michael J LyonsGreenwood Genetic Center, Greenwood, SC 29646, USA.
Jennifer LeonhardMedical Genetics, Sanford Health, Bemidji, MN 56601, USA.
Gabriel KringlenMedical Genetics, Sanford Health, Fargo, ND 58102, USA.
Kari CasasMedical Genetics, Sanford Health, Fargo, ND 58102, USA.
Christelle M El AchkarEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA.
Lacey A SmithEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Alexander RotenbergDepartment of Neurology, Harvard Medical School, Boston, MA 02215, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Annapurna PoduriEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA.
Alba Sanchis-JuanDepartment of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0QQ, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Keren J CarssDepartment of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0QQ, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Julia RankinClinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Adam ZemanDepartment of Neurology, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
F Lucy RaymondNIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
Moira BlythYorkshire Regional Genetics Service, Chapel Allerton Hospital Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.
Bronwyn KerrDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.
Karla RuizDepartment of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.
Jill UrquhartManchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.
Imelda HughesDepartment of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.
Siddharth BankaDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.
Deciphering Developmental Disorders StudyWellcome Sanger Institute, Cambridge CB10 1SA, UK.
Ulrike B S HedrichDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; The Florey Institute and Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Ingo HelbigDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Gerald W ZamponiDepartment of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
Holger LercheDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Heather C MeffordDivision of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
Mayo Clinic · USHarvard University · USMayo Clinic in Florida · USPhoenix Children's Hospital · USUniversity of Tübingen · DESorbonne Université · FRUniversity of Adelaide · AUCambridge University Hospitals NHS Foundation Trust · GBChildren's Hospital of Philadelphia · USDuke University · USKarolinska Institutet · SEOdense University Hospital · DKSanford Health · USUniversity of Auckland · NZYale University · USAlberta Children's Hospital · CABoston Children's Hospital · USChildren's Hospital of Wisconsin · USDuke Medical Center · USDuke University Hospital · US
Funding
A Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MA Genomic Approach to EpilepsyR56NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2014 to 2014
$503kNINDS NIH HHS R01 NS069605NINDS NIH HHS R56 NS069605Wellcome Trust
Abstract
Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α
Indexed as
AdolescentAdultCalcium Channels, R-TypeCation Transport ProteinsChildChild, PreschoolContractureDyskinesiasEpilepsyFemaleGenetic VariationHumansInfantMaleMegalencephalyNeurodevelopmental DisordersCACNA1E protein, humanCalcium Channels, R-TypeCation Transport ProteinsarthrogryposisCACNA1E, ion channelcalcium channelepilepsy
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