The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy
ContributorsDatta, Alexandre N![orcid](assets/images/orcid.png)
; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E![orcid](assets/images/orcid.png)
; Gardiner, Fiona; Cross, J Helen![orcid](assets/images/orcid.png)
; Heron, Bénédicte; Kaminska, Anna![orcid](assets/images/orcid.png)
; Korff, Christian; Lepine, Anne; Lesca, Gaetan![orcid](assets/images/orcid.png)
; McTague, Amy; Mefford, Heather C; Mignot, Cyrill; Milh, Matthieu; Piton, Amélie; Pressler, Ronit M![orcid](assets/images/orcid.png)
; Ruf, Susanne; Sadleir, Lynette G![orcid](assets/images/orcid.png)
; de Saint Martin, Anne![orcid](assets/images/orcid.png)
; Van Gassen, Koen; Verbeek, Nienke E; Ville, Dorothée![orcid](assets/images/orcid.png)
; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E![orcid](assets/images/orcid.png)
; Lemke, Johannes R
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
Published inEpilepsia, vol. 62, no. 2, p. 325-334
Publication date2021-02-14
First online date2021-01-07
Abstract
Keywords
- ALG13
- West syndrome
- Developmental and epileptic encephalopathy
- Epileptic spasms
- Adrenocorticotropic Hormone / therapeutic use
- Anticonvulsants / therapeutic use
- Child
- Child, Preschool
- Developmental Disabilities / genetics
- Developmental Disabilities / physiopathology
- Diet, Ketogenic
- Drug Resistant Epilepsy / genetics
- Drug Resistant Epilepsy / physiopathology
- Drug Resistant Epilepsy / therapy
- Dyskinesias / genetics
- Dyskinesias / physiopathology
- Electroencephalography
- Epileptic Syndromes / genetics
- Epileptic Syndromes / physiopathology
- Epileptic Syndromes / therapy
- Female
- Glucocorticoids / therapeutic use
- Hormones / therapeutic use
- Humans
- Infant
- Language Development Disorders / genetics
- Language Development Disorders / physiopathology
- Magnetic Resonance Imaging
- Male
- Mutation, Missense
- N-Acetylglucosaminyltransferases / genetics
- Phenotype
- Social Behavior
- Spasms, Infantile / genetics
- Spasms, Infantile / physiopathology
Funding
- Medical Research Council - [MR/T007087/1]
- National Institute for Health Research (NIHR) - [NF-SI-0515-10073]
- National Health and Medical Research Council (NHMRC) - Human Epilepsy: Understanding biology to improve outcomes [1091593]
- National Health and Medical Research Council (NHMRC) - Implementing precision medicine in epilepsy [1104831]
Citation (ISO format)
DATTA, Alexandre N et al. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. In: Epilepsia, 2021, vol. 62, n° 2, p. 325–334. doi: 10.1111/epi.16761
Main files (1)
Article (Published version)
Secondary files (4)
Identifiers
- PID : unige:170836
- DOI : 10.1111/epi.16761
- PMID : 33410528
- PMCID : PMC7898319
Commercial URLhttps://onlinelibrary.wiley.com/doi/10.1111/epi.16761
ISSN of the journal0013-9580