Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters
G Gamba - Physiological reviews, 2005 - journals.physiology.org
Electroneutral cation-Cl− cotransporters compose a family of solute carriers in which cation
(Na+ or K+) movement through the plasma membrane is always accompanied by Cl− in a 1 …
(Na+ or K+) movement through the plasma membrane is always accompanied by Cl− in a 1 …
Myoclonus: current concepts and recent advances
JN Caviness, P Brown - The Lancet Neurology, 2004 - thelancet.com
Myoclonus presents as a sudden brief jerk caused by involuntary muscle activity. An
organisational framework is crucial for determining the medical significance of the …
organisational framework is crucial for determining the medical significance of the …
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
P Cossette, L Liu, K Brisebois, H Dong, A Lortie… - Nature …, 2002 - nature.com
Although many genes that predispose for epilepsy in humans have been determined, those
that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be …
that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be …
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
Abstract We identified 15q13. 3 microdeletions encompassing the CHRNA7 gene in 12 of
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and
variable facial and digital dysmorphisms. We describe nine affected individuals, including …
variable facial and digital dysmorphisms. We describe nine affected individuals, including …
Mice deficient in the α7 neuronal nicotinic acetylcholine receptor lack α-bungarotoxin binding sites and hippocampal fast nicotinic currents
A Orr-Urtreger, FM Göldner, M Saeki… - Journal of …, 1997 - Soc Neuroscience
The α7 subunit of the neuronal nicotinic acetylcholine receptor (nAChR) is abundantly
expressed in hippocampus and is implicated in modulating neurotransmitter release and in …
expressed in hippocampus and is implicated in modulating neurotransmitter release and in …
Association of promoter variants in the α7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia
S Leonard, J Gault, J Hopkins, J Logel… - Archives of general …, 2002 - jamanetwork.com
Background The α7 neuronal nicotinic acetylcholine receptor subunit gene (CHRNA7) has
been implicated as a candidate gene for schizophrenia, and for an auditory sensory …
been implicated as a candidate gene for schizophrenia, and for an auditory sensory …
Nicotinic receptors in the brain: correlating physiology with function
S Jones, S Sudweeks, JL Yakel - Trends in neurosciences, 1999 - cell.com
Nicotinic ACh receptors (nAChRs) have been implicated in a variety of brain functions,
including neuronal development, learning and memory formation, and reward. Although …
including neuronal development, learning and memory formation, and reward. Although …
Microdeletion/duplication at 15q13. 2q13. 3 among individuals with features of autism and other neuropsychiatric disorders
Background: Segmental duplications at breakpoints (BP4–BP5) of chromosome 15q13.
2q13. 3 mediate a recurrent genomic imbalance syndrome associated with mental …
2q13. 3 mediate a recurrent genomic imbalance syndrome associated with mental …
Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family
The K+-Cl− cotransporters (KCCs) belong to the gene family of electroneutral cation-
chloride cotransporters, which also includes two bumetanide-sensitive Na+-K+-2Cl …
chloride cotransporters, which also includes two bumetanide-sensitive Na+-K+-2Cl …