Pages that link to "Q39859025"

The following pages link to A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies? (Q39859025):

Displaying 28 items.

• Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment (Q26829715) (← links)
• Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models (Q26861471) (← links)
• On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases (Q28080803) (← links)
• FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels (Q33705386) (← links)
• Bioluminescence methodology for the detection of protein-protein interactions within the voltage-gated sodium channel macromolecular complex (Q35995096) (← links)
• Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects (Q37256074) (← links)
• Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation. (Q37343879) (← links)
• NaV1.1 channels and epilepsy (Q37701079) (← links)
• Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders. (Q37714086) (← links)
• Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again (Q37786731) (← links)
• Na+ channelopathies and epilepsy: recent advances and new perspectives. (Q37960093) (← links)
• Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies. (Q38026557) (← links)
• Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine (Q38080592) (← links)
• Altered PKA modulation in the Na(v)1.1 epilepsy variant I1656M. (Q39110237) (← links)
• Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects (Q39360713) (← links)
• Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations (Q39431641) (← links)
• Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol (Q41808396) (← links)
• Structural analyses of Ca²⁺/CaM interaction with NaV channel C-termini reveal mechanisms of calcium-dependent regulation (Q42908541) (← links)
• Sodium Channel Trafficking (Q47757936) (← links)
• Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T. (Q47977892) (← links)
• SCN3A deficiency associated with increased seizure susceptibility. (Q48293682) (← links)
• Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures (Q48664983) (← links)
• Loss-of-function of Nav1.8/D1639N linked to human pain can be rescued by lidocaine (Q57169857) (← links)
• Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine. (Q64932646) (← links)
• A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel (Q89544532) (← links)
• SCN1A variants from bench to bedside-improved clinical prediction from functional characterization (Q91540692) (← links)
• Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy (Q93143687) (← links)
• A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients (Q96683713) (← links)