| P2093 | author name string | Sameer M Zuberi | |
| P2860 | cites work | KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel | Q22008501 |
| | KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness | Q22008780 |
| | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Q22253421 |
| | CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24290583 |
| | Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome | Q24291252 |
| | The skeletal muscle chloride channel in dominant and recessive human myotonia | Q24293083 |
| | Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB) | Q24293103 |
| | Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit | Q24306667 |
| | A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24308706 |
| | Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 | Q24312199 |
| | New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome | Q24314525 |
| | An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness | Q24315182 |
| | A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome | Q24318498 |
| | A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Q24319094 |
| | Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity | Q24319151 |
| | Radicals r'aging | Q24322096 |
| | Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia | Q24336984 |
| | Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker | Q24529156 |
| | De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy | Q24533495 |
| | Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel | Q24555140 |
| | A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction | Q24626279 |
| | Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle | Q24676753 |
| | A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family | Q28115034 |
| | The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy | Q28142926 |
| | First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene | Q28186139 |
| | Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures | Q28186159 |
| | A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy | Q28198095 |
| | MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis | Q28201439 |
| | Sodium-channel defects in benign familial neonatal-infantile seizures | Q28202961 |
| | Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures | Q28207332 |
| | Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita | Q28208914 |
| | Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies | Q28213203 |
| | Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy | Q28216597 |
| | A calcium channel mutation causing hypokalemic periodic paralysis | Q28242375 |
| | KCNE1 mutations cause jervell and Lange-Nielsen syndrome | Q28253362 |
| | Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit | Q28286768 |
| | Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 | Q28295213 |
| | End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit | Q28299250 |
| | Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel | Q28300848 |
| | A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis | Q28305953 |
| | Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability | Q30048274 |
| | Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. | Q43608348 |
| | Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia | Q55670933 |
| P433 | issue | 4 | |
| P304 | page(s) | 187-190 | |
| P577 | publication date | 2003-01-01 | |
| P1433 | published in | European Journal of Paediatric Neurology | Q15755269 |
| P1476 | title | Gene table. Central nervous system/neuromuscular channelopathies | |
| P478 | volume | 7 | |