Cargando…
Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
BACKGROUND: Isodicentric 15 syndrome (IDIC-15) is due to partial duplications of chromosome 15 that may includes the q11–13 region that includes genes encoding the α5 (GABRA5) and β3 - γ3 (GABRB3) receptor subunits. The disease causes intellectual and physical developmental delay, seizures, intellec...
Autores principales: | Di Rocco, Alessandro, Loggini, Andrea, Di Rocco, Maja, Di Rocco, Pietro, Rossi, Roger P, Gimelli, Giorgio, Bazil, Carl |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660219/ https://www.ncbi.nlm.nih.gov/pubmed/23663378 http://dx.doi.org/10.1186/1471-2377-13-43 |
Ejemplares similares
-
An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population
por: Hou, Sheue-Jane, et al.
Publicado: (2021) -
Molecular and clinical descriptions of patients with GABA(A)
receptor gene variants (
GABRA1, GABRB2, GABRB3, GABRG2
): A cohort study, review of literature, and genotype–phenotype correlation
por: Maillard, Pierre‐Yves, et al.
Publicado: (2022) -
Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABA(A) receptors
por: Hernandez, Ciria C, et al.
Publicado: (2021) -
The Effects of Gene Variations of GABRA2, GABRB1, GABRG2, GAD1 and SLC1A3 on Patients with Propofol During Anesthesia Induction
por: Zhang, Lingyi, et al.
Publicado: (2021) -
Correction to: Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABA(A) receptors
Publicado: (2022)