Evidence map›Paper›PMID 24623842›Full record

ArticleNeurology2014

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Gemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, Corinna Hartmann, Rikke S Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J O'Roak, Steve Petrou and 16 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
139citing papers in PubMed, 2 pooled it
22.9field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

139 citing papers in PubMed, 2 syntheses or guidelines pooled it, 256 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Article
  5. A pore-facing glycan constrains GABACommunications biology · 2026
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  10. Precision diagnosis ofFrontiers in genetics · 2026
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  11. AExperimental and therapeutic medicine · 2025
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  18. Early mortality in STXBP1-related disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  19. Article
  20. Review

79 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors at 1 institution in 1 country.

Gemma L CarvillFrom the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.
Sarah Weckhuysen
Jacinta M McMahon
Corinna Hartmann
Rikke S Møller
Helle Hjalgrim
Joseph Cook
Eileen Geraghty
Brian J O'Roak
Steve Petrou
Alison Clarke
Deepak Gill
Lynette G Sadleir
Hiltrud Muhle
Sarah von Spiczak
Marina Nikanorova
Bree L Hodgson
Elena V Gazina
Arvid Suls
Jay Shendure
Leanne M Dibbens
Peter De Jonghe
Ingo Helbig
Samuel F Berkovic
Ingrid E Scheffer
Heather C Mefford
VIB-UAntwerp Center for Molecular Neurology · BE

Funding

A Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9M
NINDS NIH HHS NINDS 5R01NS069605NINDS NIH HHS R01 NS069605
6 · The paper itself

Abstract

objectiveTo determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing.

methodsWe performed whole-exome sequencing in 13 SCN1A-negative patients with Dravet syndrome and targeted resequencing in 67 additional patients to identify new genes for this disorder.

resultsWe detected disease-causing mutations in 2 novel genes for Dravet syndrome, with mutations in GABRA1 in 4 cases and STXBP1 in 3. Furthermore, we identified 3 patients with previously undetected SCN1A mutations, suggesting that SCN1A mutations occur in even more than the currently accepted ∼ 75% of cases.

conclusionsWe show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. Our results have important implications for diagnostic testing, clinical management, and genetic counseling of patients with this devastating disorder and their families.

Indexed as

AdolescentAdultChildChild, PreschoolEpilepsies, MyoclonicFemaleGenetic Predisposition to DiseaseHumansMaleMunc18 ProteinsMutationNerve Tissue ProteinsReceptors, GABA-AYoung AdultGABRA1 protein, humanMunc18 ProteinsNerve Tissue ProteinsReceptors, GABA-ASTXBP1 protein, human

Identifiers

PMID24623842
PMCPMC4001207
OpenAlexW2159933632

What OpenQuestion holds

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Read underepoch 390

Registered trials

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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.