# Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/early-infantile-onset-epilepsy-and-developmental-delay-caused-by-bi-allelic-gad1/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Caroline Neuray,Reza Maroofian,Marcello Scala,Tipu Sultan,G. Shashidhar Pai,Majid Mojarrad,Heba El Khashab,Leigh deHoll,Wyatt W. Yue,Hessa S. Alsaif,M. Natalia Zanetti,Oscar D. Bello,Richard Person,Atieh Eslahi,Zaynab Khazaei,Masoumeh Heidari Feizabadi,Stéphanie Efthymiou,SYNaPS Study Group,Stanislav Groppa,Blagovesta Marinova Karashova,Wolfgang Nachbauer,Sylvia Boesch,Larissa Arning,Dagmar Timmann,Bru Cormand,Belén Pérez‐Dueñas,Gabriella Di Rosa,Jatinder S. Goraya,Tipu Sultan,Jun Mine,Daniela Avdjieva,Hadil Kathom,Radka Tincheva,Selina Banu,Mercedes Pineda-Marfa,Pierangelo Veggiotti,Michel D. Ferrari,Alberto Verrottı,Gian Luigi Marseglia,Salvatore Savasta,Mayte García-Silva,Alfons Macaya Ruiz,Barbara Garavaglia,Eugenia Borgione,Simona Portaro,Benigno Monteagudo Sanchez,Richard G. Boles,Savvas Papacostas,Michail Vikelis,Eleni Zamba Papanicolaou,Efthymios Dardiotis,Shazia Maqbool,Shahnaz Ibrahim,Salman Kirmani,Nuzhat Rana,Osama Atawneh,George Koutsis,Marianthi Breza,Salvatore Mangano,Carmela Scuderi,Eugenia Borgione,Giovanna Morello,Tanya Stojkovic,Massimi Zollo,Gali Heimer,Yves Dauvilliers,Pasquale Striano,Issam Al-Khawaja,Fuad Al-Mutairi,Sherifa A. Hamed,Hala T. El‐Bassyouni,Doaa Soliman,Selahattin Tekeş,Leyla Özer,Volkan Baltacı,Suliman Khan,Christian Beetz,Khalda Amr,Vincenzo Salpietro,Yalda Jamshidi,Fowzan S. Alkuraya,Henry Houlden |
| Citations | 50 |
| DOI | 10.1093/brain/awaa178 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://academic.oup.com/brain/article-pdf/143/8/2388/33773866/awaa178.pdf |
| OpenAlex ID | https://openalex.org/W3044972848 |
| PMID | 32705143 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Hala T. El‐Bassyouni](https://scholariq.org/researchers/hala-t-el-bassyouni/)

## Paper journal

- [Brain](https://scholariq.org/journals/brain/)

## Paper primary topic

- [Neuroscience and Neuropharmacology Research](https://scholariq.org/topics/neuroscience-and-neuropharmacology-research/)

## Paper topics

- [Neuroscience and Neuropharmacology Research](https://scholariq.org/topics/neuroscience-and-neuropharmacology-research/)
- [RNA regulation and disease](https://scholariq.org/topics/rna-regulation-and-disease/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.