Central nervous system/neuromuscular channelopathies

European Journal of Paediatric Neurology

Volumn 7, Issue 4, 2003, Pages 187-190

  Zuberi, Sameer M ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; CHLORIDE CHANNEL; CHOLINERGIC RECEPTOR; GENE PRODUCT; GLYCINE RECEPTOR; SODIUM CHANNEL; VOLTAGE GATED POTASSIUM CHANNEL; ION CHANNEL;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BENIGN CHILDHOOD EPILEPSY; CENTRAL NERVOUS SYSTEM DISEASE; FEBRILE CONVULSION; FRONTAL LOBE EPILEPSY; GENE LOCATION; GENERALIZED EPILEPSY; HUMAN; MYOCLONUS EPILEPSY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; STARTLE EPILEPSY; CHROMOSOME MAP; GENE EXPRESSION; GENETICS;

CENTRAL NERVOUS SYSTEM DISEASES; CHROMOSOME MAPPING; GENE EXPRESSION; HUMANS; ION CHANNELS; NEUROMUSCULAR DISEASES;

EID: 0141687099     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(03)00053-9     Document Type: Article

References (43)

1. Steinlein O, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-3.
2. Fusco MD, Becchetti A, Patrignani A, et al. The nicotinic receptor beta2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-6.
3. Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001;68:225-31.
4. Cossette P, Liu L, Brisebois K, Dong H, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31(2):184-9.
5. Haug K, Warnstedt M, Atekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003; 33(4):527-32.
6. A receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52.
7. A receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nat Genet 2001;28:46-8.
8. Shiang R, Ryan SG, Zhu Y, et al. Mutations in the α1A subunit of the inhibitory glycine receptor cause the dominant neurological disorder hyperekplexia. Nat Genet 1993;5:351-8.
9. Rees MI, Lewis TM, Kwok JB, et al. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet 2002;11(7):853-60.
10. Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-9.
11. Wang HS, Pan Z, Shi W, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 1998;282:1890-3.
12. Dedek K, Kunath B, Kananura C, et al. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K + channel. Proc Natl Acad Sci USA 2001;98: 12272-7.
13. Charlier C, Singh NA, Ryan SG, et al. pore mutation in a novel KQT like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-5.
14. Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene KCNA1. Nat Genet 1994; 8:136-40.
15. Zuberi SM, Eunson LH, Spauschus A, et al. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 1999;122:817-25.
16. Heron SE, Crossland KM, Andermann E, Phillips HA, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-2.
17. Wallace RH, Wang DW, Singh R, et al. Febrile seizures and epilepsy associated with a mutation in the Na + channel β1 subunit gene SCN1B. Nat Genet 1998;19:366-70.
18. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neurona(sodium channel, in two families with GEFS + 2. Nat Genet 2000;24:343-5.
19. Claes L, Del-Favero J, Ceulemans B, et al. De nova mutations in the sodium channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-32.
20. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003;126(Part 3): 531-46.
21. Sugawara T, Tsurubuchi Y, Agarwala KL, et al. 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. Proc Natl Acad Sci USA 2001;98:6384-9.
22. Ophoff RA, Terwindt Gm, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type 2 are caused by mutations in the Ca2 + channel gene CACNL1A4. Cell 1996; 87:543-52.
23. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
24. Rojas CV, Wang JZ, Schwartz LS, et al. Met-to-Val mutation in the skeletal muscle Na + channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 1991; 354:387-9.
25. McClatchey AI, Van den Bergh P, Pericak-Vance MA, et al. Temperature sensitive mutations in the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992; 68:769-74.
26. Lerche H, Heine R, Pika U, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol 1993;470: 13-22.
27. Sternberg D, Maisonobe T, Jurkatt-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124:1091-9.
28. Jurkatt-Rott K, Lehmann-Horn F, Elbaz A, et al. A calcium channel mutation causing hypokalaemic periodic paralysis. Hum Mol Genet 1994;3:1415-9.
29. Monnier N, Procaccio V, Stinglitz P, et al. 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. Am J Hum Genet 1997;60: 1316-25.
30. Quane KA, Keating H, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993;5:51-5.
31. Strom TM, Nyakatura G, Apfelstedt-Sylla E, et al. An L-type calcium channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 1998;19: 200-3.
32. Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
33. Abbott GW, Butler MH, Bendahhou S, et al. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 2001;104(2): 217-31.
34. Eunson LH, Rea R, Zuberi SM, et al. Clinical, genetic and expression studies of mutations in the human voltage-gated potassium channel KCNA1 reveal new phenotypic variability. Ann Neurol 2000;48:647-56.
35. Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105: 511-9.
36. Neyroud N, Tesson F, Denjoy, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervelt and Lange-Nietsen cardioauditory syndrome. Nat Genet 1997;15: 186-9.
37. Schulze-Bahr E, Wang Q, Wedekind H, et al. KCNE1 mutations cause Jervell and Lange-Nielsen Syndrome. Nat Genet 1997;17:267-8.
38. Kubisch C, Schroeder BC, Friedrich S. KCNQ4. a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999;96:437-46.
39. Sine SM, Ohno K, Bouzat C, et al. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 1995;15:229-39.
40. Engel AG, Ohno K, Milone M, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1996;5:1217-27.
41. Ohno K, Hutchinson DO, Milone M, et al. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to mutation in the MZ domain of the epsilon subunit. Proc Natl Acad Sci USA 1995;92: 758-62.
42. Ohno K, Wang HL, Milone M. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 1996;17:157-70.
43. Engel AG, Ohno K, Bouzat C. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol 1996;40:810-7.