Portal de investigación
Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Mazón M
Grupos
Abstract
Recessive mutations in the SLC4A4 gene cause a syndrome characterised by proximal renal tubular acidosis (pRTA), mental retardation, dental and ocular abnormalities, and hemiplegic migraine. Rare cases involving the development of epilepsy or its severe complication-status epilepticus-have been described.
Datos de la publicación
- ISSN/ISSNe:
- 1590-1874, 1590-3478
- Tipo:
- Article
- Páginas:
- 3647-3654
- PubMed:
- 33439394
- Factor de Impacto:
- 0,847 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
NEUROLOGICAL SCIENCES SPRINGER-VERLAG ITALIA SRL
Citas Recibidas en Web of Science: 13
Documentos
- No hay documentos
Filiaciones
Keywords
- NBCe1, Paroxysmal movement disorders, Roma ancestry, Seizures, Status epilepticus
Campos de Estudio
Cita
GIL S,JAIJO T,VERDÚ AG,RUBIO P,Mazón M,GASQUÉ R,DÍAZ S. Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation. Neurol. Sci. 2021. 42. (9):p. 3647-3654. IF:3,830. (2).