Pages that link to "Q24632952"
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The following pages link to Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus (Q24632952):
Displaying 50 items.
- BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy (Q24532132) (← links)
- Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome (Q26776222) (← links)
- Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice (Q26777746) (← links)
- Epileptic encephalopathies: new genes and new pathways (Q27027982) (← links)
- The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration (Q27312345) (← links)
- Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels (Q28204139) (← links)
- Increased Expression of GABAAReceptor β-Subunits in the Hippocampus of Patients with Temporal Lobe Epilepsy (Q28204257) (← links)
- Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation (Q28217195) (← links)
- Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB) (Q28240097) (← links)
- SCN1A mutations and epilepsy (Q28249270) (← links)
- A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline (Q28251184) (← links)
- The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression (Q28267274) (← links)
- The neurobiology of antiepileptic drugs (Q28267900) (← links)
- Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors (Q28295071) (← links)
- Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals (Q28397138) (← links)
- Model of autism: increased ratio of excitation/inhibition in key neural systems (Q29547530) (← links)
- Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity (Q30394301) (← links)
- Exploring Human Diseases and Biological Mechanisms by Protein Structure Prediction and Modeling. (Q30394826) (← links)
- Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy (Q30480652) (← links)
- Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy (Q30486496) (← links)
- Sexually dimorphic expression of KCC2 and GABA function (Q30487718) (← links)
- A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation (Q30538580) (← links)
- CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures (Q30558547) (← links)
- Susceptibility to febrile seizures: more than just a faulty thermostat! (Q33347285) (← links)
- Genetic testing in the epilepsies--report of the ILAE Genetics Commission (Q33794130) (← links)
- Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes (Q33847202) (← links)
- Mutations affecting GABAergic signaling in seizures and epilepsy (Q33912426) (← links)
- Familial clustering of seizure types within the idiopathic generalized epilepsies (Q34019222) (← links)
- GABA acts as a ligand chaperone in the early secretory pathway to promote cell surface expression of GABAA receptors (Q34140020) (← links)
- Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy (Q34154771) (← links)
- Gender-specific contribution of the GABAA subunit genes on 5q33 in methamphetamine use disorder (Q34271352) (← links)
- mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies (Q34315858) (← links)
- Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction. (Q34339959) (← links)
- Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy. (Q34381755) (← links)
- The hidden genetics of epilepsy-a clinically important new paradigm (Q34415194) (← links)
- A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. (Q34464870) (← links)
- Epilepsy in children (Q34493734) (← links)
- A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy (Q34543571) (← links)
- Ethical, legal, and social dimensions of epilepsy genetics (Q34575712) (← links)
- Fever, febrile seizures and epilepsy (Q34583334) (← links)
- Genes associated with idiopathic epilepsies: a current overview (Q34605560) (← links)
- Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies (Q34789999) (← links)
- Genetics of epilepsy: current status and perspectives. (Q34804508) (← links)
- Epileptogenesis after prolonged febrile seizures: Mechanisms, biomarkers and therapeutic opportunities (Q35028306) (← links)
- Exploring New Gene Discoveries in Idiopathic Generalized Epilepsy (Q35129602) (← links)
- Altered GABA signaling in early life epilepsies (Q35147300) (← links)
- The genetics of febrile seizures and related epilepsy syndromes. (Q35173040) (← links)
- Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders (Q35173644) (← links)
- Reducing GABA receptors (Q35187772) (← links)
- The genetic and molecular basis of epilepsy (Q35192541) (← links)