# Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/defining-the-phenotypic-spectrum-of-i-slc6a1-i-mutations/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Katrine M. Johannesen,Elena Gardella,Tarja Linnankivi,Carolina Courage,Anne de Saint Martin,Anna‐Elina Lehesjoki,Cyril Mignot,Alexandra Afenjar,Gaëtan Lesca,Marie‐Thérèse Abi‐Warde,Jamel Chelly,Amélie Piton,J. Lawrence Merritt,Lance H. Rodan,Wen‐Hann Tan,Lynne M. Bird,Mark Nespeca,Joseph G. Gleeson,Yongjin Yoo,Murim Choi,Jong‐Hee Chae,Desiree Czapansky-Beilman,Sara Reichert,Manuela Pendziwiat,Judith Verhoeven,Helenius J. Schelhaas,Orrin Devinsky,Jakob Christensen,Nicola Specchio,Marina Trivisano,Yvonne Weber,Caroline Nava,Boris Keren,Diane Doummar,Élise Schaefer,Sarah Hopkins,Holly Dubbs,Jessica Shaw,Laura Rosa Pisani,Candace T. Myers,Sha Tang,Shan Tang,Deb K. Pal,J Gordon Millichap,Gemma L. Carvill,Kathrine L. Helbig,Oriano Mecarelli,Pasquale Striano,Ingo Helbig,Guido Rubboli,Heather C. Mefford,Rikke S. Møller |
| Citations | 152 |
| DOI | 10.1111/epi.13986 |
| Fields | Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/epi.13986 |
| OpenAlex ID | https://openalex.org/W2783266079 |
| PMID | 29315614 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Jong‐Hee Chae](https://scholariq.org/researchers/jong-hee-chae/)

## Paper journal

- [Epilepsia](https://scholariq.org/journals/epilepsia/)

## Paper primary topic

- [Glycogen Storage Diseases and Myoclonus](https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/)

## Paper topics

- [Glycogen Storage Diseases and Myoclonus](https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)
- [Autoimmune Neurological Disorders and Treatments](https://scholariq.org/topics/autoimmune-neurological-disorders-and-treatments/)

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