Genetic associations with reflexive visual attention in infancy and childhood.
United States. In Dev Sci, Dec 2015
The genetic markers (single nucleotide polymorphisms and variable number tandem repeats on the genes APOE, BDNF, CHRNA4, COMT, DRD4, HTR4, IGF2, MAOA, SLC5A7, SLC6A3, and SNAP25) are related to brain development and/or to the availability of neurotransmitters such as acetylcholine, dopamine, or serotonin.
Genetic models of focal epilepsies.
Paris, France. In J Neurosci Methods, Jul 2015
In this article, we provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal dominant epilepsy with auditory features (ADEAF).
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
Paris, France. In Prog Brain Res, 2013
Molecular genetic advances in inherited focal epilepsies have pinpointed their genetic heterogeneity and the fact that they are mediated by different biological pathways: ion channel subunit genes have been linked to ADNFLE (CHRNA4, CHRNA2, CHRNB2, and KCNT1, encoding, respectively, the α4, α2, and β2 subunits of the neuronal nicotinic acetylcholine receptor, and a potassium channel subunit); neuronal secreted protein (LGI1-encoding epitempin) has been linked to autosomal dominant epilepsy with auditory features; and mTORC1-repressor DEPDC5 (DEP domain-containing protein 5) gene has recently been reported in a broad spectrum of inherited focal epilepsies (ADNFLE, FTLE, FFEVF).
Biochemical and genetic analyses of childhood attention deficit/hyperactivity disorder.
Çankırı, Turkey. In Am J Med Genet B Neuropsychiatr Genet, 2012
To date, these studies have reported substantial evidence implicating several genes (dopaminergic: DRD4, DAT1, DRD5, COMT; noradrenergic: DBH, ADRA2A; serotonergic: 5-HTT, HTR1B, HTR2A; cholinergic: CHRNA4, and central nervous system development pathway: SNAP25, BDNF) in the etiology of ADHD.
Nicotinic acetylcholine receptor mutations
Bethesda, United States. In Unknown Journal, 0001
This rare genetic syndrome can be caused by mutations in at least two different subunits genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2.