# Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/bi-allelic-gad1-variants-cause-a-neonatal-onset-syndromic-developmental-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Nicolas Chatron,Felicitas Becker,Heba Morsy,Miriam Schmidts,Katia Hardies,Beyhan Tüysüz,Sandra Roselli,Maryam Najafi,Dilek Uludağ Alkaya,Farah Ashrafzadeh,Amira Nabil,Tarek Omar,Reza Maroofian,Ehsan Ghayoor Karimiani,Haytham Hussien,Fernando Kok,Luiza Ramos,Nilay Güneş,Kaya Bilgüvar,Audrey Labalme,Eudéline Alix,Damien Sanlaville,Julitta de Bellescize,Anne‐Lise Poulat,Ingo Helbig,Sarah von Spiczak,Stéphanie Baulac,Nina Barišić,Rudi Balling,Hande Çağlayan,Dana Craiu,Renzo Guerrini,Karl Martin Klein,Carla Marini,Hiltrud Muhle,Felix Rosenow,José M. Serratosa,Katalin Štěrbová,Yvonne Weber,Ali‐Reza Moslemi,Holger Lerche,Patrick May,Gaëtan Lesca,Sarah Weckhuysen,Homa Tajsharghi |
| Citations | 32 |
| DOI | 10.1093/brain/awaa085 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://academic.oup.com/brain/article-pdf/143/5/1447/33456875/awaa085.pdf |
| OpenAlex ID | https://openalex.org/W3015615950 |
| PMID | 32282878 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Dilek Uludağ Alkaya](https://scholariq.org/researchers/dilek-uludag-alkaya/)

## Paper journal

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

## Paper primary topic

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

## Paper topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

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