Pages that link to "Q41595931"

The following pages link to Phenotype variation and newcomers in ion channel disorders (Q41595931):

Displaying 24 items.

• Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A (Q22008052) ‎ (← links)
• Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 (Q22253421) ‎ (← links)
• Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic (Q24329192) ‎ (← links)
• A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy (Q24536363) ‎ (← links)
• Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans (Q24651364) ‎ (← links)
• SCN1A mutations and epilepsy (Q28249270) ‎ (← links)
• Decreased (45)Ca(2)(+) uptake in P/Q-type calcium channels in homozygous lethargic (Cacnb4lh) mice is associated with increased beta3 and decreased beta4 calcium channel subunit mRNA expression (Q28504580) ‎ (← links)
• A novel syndrome of episodic muscle weakness maps to xp22.3. (Q34145749) ‎ (← links)
• Sodium channels and neurological disease: insights from Scn8a mutations in the mouse (Q34331937) ‎ (← links)
• A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation (Q35127070) ‎ (← links)
• Molecular neurobiology and genetics: investigation of neural function and dysfunction (Q41737191) ‎ (← links)
• Familial migraine with vertigo: no mutations found in CACNA1A. (Q46574115) ‎ (← links)
• Mutational analysis of the Shab-encoded delayed rectifier K(+) channels in Drosophila (Q47944246) ‎ (← links)
• Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels (Q48898598) ‎ (← links)
• Fast- and slow-gating modes of the sodium channel are altered by a paramyotonia congenita-linked mutation (Q48920791) ‎ (← links)
• Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. (Q48934070) ‎ (← links)
• A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities (Q49049294) ‎ (← links)
• Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients (Q50282530) ‎ (← links)
• Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. (Q52535337) ‎ (← links)
• [Ionic channels and epilepsy] (Q73978072) ‎ (← links)
• PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness (Q77601951) ‎ (← links)
• Potassium ion channels and human disease: phenotypes to drug targets? (Q77796097) ‎ (← links)
• In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia (Q80863131) ‎ (← links)
• CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid (Q83050898) ‎ (← links)