CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
about
CNV and nervous system diseases--what's new?Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine responseGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsParoxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.Ion channels and epilepsyMutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsyHow mutations in the nAChRs can cause ADNFLE epilepsyGenetics and epilepsy.The genetic components of alcohol and nicotine co-addiction: from genes to behaviorAltered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor.Nicotinic Receptors: Role in Addiction and Other Disorders of the Brain.Genetic testing in the epilepsies--report of the ILAE Genetics CommissionUnraveling monogenic channelopathies and their implications for complex polygenic diseaseAsynchronous Cholinergic Drive Correlates with Excitation-Inhibition Imbalance via a Neuronal Ca2+ Sensor Protein.Ion channels and neurology.Minimal structural rearrangement of the cytoplasmic pore during activation of the 5-HT3A receptor.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.Genes and mutations in idiopathic epilepsy.Identification of epilepsy genes in human and mouseChannelopathies can cause epilepsy in man.Genes associated with idiopathic epilepsies: a current overview.The neuronal channelopathies.Genetics of inherited human epilepsiesThe possible contribution of neuronal nicotinic acetylcholine receptors in depressionNicotinic excitatory postsynaptic potentials in hippocampal CA1 interneurons are predominantly mediated by nicotinic receptors that contain α4 and β2 subunitsGenetic mechanisms that underlie epilepsy.Molecular basis of Mendelian idiopathic epilepsies.Multidisciplinary approach to childhood epilepsy: exploring the scientific rationale and practical aspects of implementation.Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsyComparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.Genetics of idiopathic epilepsies.Sacred disease secrets revealed: the genetics of human epilepsy.Genetic focal epilepsies: state of the art and paths to the future.Role of genetics in the diagnosis and treatment of epilepsy.Channelopathies in idiopathic epilepsy.A polygenic heterogeneity model for common epilepsies with complex genetics.Genetics of epilepsies.Epileptogenic channelopathies: experimental models of human pathologies.Forty years from markers to genes.
P2860
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P2860
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@ast
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@en
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@en-gb
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@nl
type
label
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@ast
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@en
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@en-gb
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@nl
prefLabel
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@ast
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@en
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@en-gb
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
CHRNB2 is the second acetylcho ...... octurnal frontal lobe epilepsy
@en
P2093
Bertrand D
Kirkpatrick M
Phillips HA
Sutherland GR
P2860
P304
P3181
P356
10.1086/316946
P407
P577
2000-12-05T00:00:00Z