A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3

Human Genetics

Volumn 125, Issue 5-6, 2009, Pages 541-549

  Ratnapriya, Rinki ^a   Satishchandra, Parthasarthy ^b   Kumar, S Dilip ^b   Gadre, Girish ^b   Reddy, Ramesh ^a   Anand, Anuranjan ^a  

^a JAWAHARLAL NEHRU CENTRE FOR ADVANCED SCIENTIFIC RESEARCH   (India)

^b NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; ION CHANNEL; POTASSIUM CHANNEL KCNMA1; PROTEIN SLC25A16; PROTEIN SLC29A3; UNCLASSIFIED DRUG; VOLTAGE DEPENDENT ANION CHANNEL 2;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 10Q; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HEAT SENSATION; HETEROZYGOTE; HUMAN; LINKAGE ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REFLEX EPILEPSY; SENSORY STIMULATION; SEQUENCE ANALYSIS;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; DNA MUTATIONAL ANALYSIS; EPILEPSY, REFLEX; FEMALE; GENES, DOMINANT; GENETIC MARKERS; HAPLOTYPES; HUMANS; INDIA; LOD SCORE; MALE; MICROSATELLITE REPEATS; PEDIGREE;

EID: 67349240847     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0648-3     Document Type: Article

References (45)

1. Allen IM (1945) Observations on cases of reflex epilepsy. NZ Med J 44:135-142
2. Audenaert D, Van Broeckhoven C, De Jonghe P (2006) Genes and loci involved in febrile seizures and related epilepsy syndromes. Hum Mutat 27:391-401
3. Bebek N, Gürses C, Gokyigit A, Baykan B, Ozkara C, Dervent A (2001) Hot water epilepsy: Clinical and electrophysiologic findings based on 21 cases. Epilepsia 42:1180-1184
4. Brennan TJ, Seeley WW, Kilgard M, Schreiner CE, Tecott LH (1997) Sound-induced seizures in serotonin 5-HT2c receptor mutant mice. Nat Genet 16:387-390
5. Brodtkorb E, Gu W, Nakken KO, Fischer C, Steinlein OK (2002) Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia 43:228-235
6. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
7. Dravet C, Bureau M, Guerrini R, Giraud N, Roger J (1992) Severe myoclonic epilepsy in infants. In: Roger J, Dravet C, Bureau M, Dreifuss FE, Perret A, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence, 2nd edn. John Libbey, London, pp 75-88
8. Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, Lüders HO, Shi J, Cui J, Richerson GB, Wang QK (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 37:733-738
9. Engel J Jr (2001) ILAE Commission Report. A proposed diagnostic scheme for people with epileptic seizures and epilepsy. Report of the ILAE task force on classification and terminology. Epilepsia 42:796-803
10. Gachon F, Fonjallaz P, Damiola F, Gos P, Kodama T, Zakany J, Duboule D, Petit B, Tafti M, Schibler U (2004) The loss of circadian PAR bZip transcription factors results in epilepsy. Genes Dev 18:1397-1412
11. Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I (2008) A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia 49:626-633
12. Jackson FR, Wilson SD, Strichartz GR, Hall LM (1984) Two types of mutants affecting voltage-sensitive sodium channels in Drosophila melanogaster. Nature 308:189-191
13. Jiang W, Duong TM, de Lanerolle NC (1999) The neuropathology of hyperthermic seizures in the rat. Epilepsia 40:5-19
14. Kawai H, Allende ML, Wada R, Kono M, Sango K, Deng C, Miyakawa T, Crawley JN, Werth N, Bierfreund U, Sandhoff K, Proia RL (2001) Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures. J Biol Chem 276:6885-6888
15. Keipert JA (1969) Epilepsy precipitated by bathing: Water-immersion epilepsy. Aust Paediatr J 5:244-247
16. Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P (2008) A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11. Am J Med Genet A 146A:578-584
17. Klauenberg BJ, Sparber SB (1984) A kindling-like effect induced by repeated exposure to heated water in rats. Epilepsia 25:292-301
18. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363
19. Kurata S (1979) Epilepsy precipitated by bathing-A follow-up study. Brain Dev 11:400-405 (domestic ed)
20. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci 81:3443-3446
21. Lenoir P, Ramet J, De Meirleir L, D'Allest AM, Desprechins B, Loeb HL (1989) Bathing-induced seizures. Pediatr Neurol 5:124-125
22. Leviton A, Cowan LD (1982) Epidemiology of seizure disorders in children. Neuroepidemiology 1:62-83
23. Mani KS, Gopalakrishnan PN, Vyas JN, Pillai MS (1968) Hot-water epilepsy - A peculiar type of reflex epilepsy. A preliminary report. Neurol India 16:107-110
24. Mani KS, Mani AJ, Ramesh CK (1974) Hot-water epilepsy - A peculiar type of reflex epilepsy: Clinical and EEG features in 108 cases. Trans Am Neurol Assoc 99:224-226
25. Mautner VF, Lindenau M, Gottesleben A, Goetze G, Kluwe L (2000) Supporting evidence of a gene for partial epilepsy on 10q. Neurogenetics 3:31-34
26. Mofenson HC, Weymuller CA, Greensher J (1965) Epilepsy due to water immersion: An unusual case of reflex sensory epilepsy. JAMA 191:600-601
27. Moran J (1976) So-called water immersion epilepsy. Ir J Med Sci 145:140
28. Morimoto T, Hayakawa T, Sugie H, Awaya Y, Fukuyama Y (1985) Epileptic seizures precipitated by constant light, movement in daily life, and hot water immersion. Epilepsia 26:237-242
29. Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML, Neystat M, Susser M, Wilhelmsen KC (1995) Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 10:56-60
30. Pinto D, Westland B, de Haan GJ, Rudolf G, da Silva BM, Hirsch E, Lindhout D, Trenite DG, Koeleman BP (2005) Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13. Hum Mol Genet 14:171-178
31. Poza JJ, Sáenz A, Martínez-Gil A, Cheron N, Cobo AM, Urtasun M, Martí-Massó JF, Grid D, Beckmann JS, Prud'homme JF, Ĺpez de Munain A (1999) Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol 45:182-188
32. Puranam RS, Jain S, Kleindienst AM, Saxena S, Kim MK, Kelly Changizi B, Padma MV, Andrews I, Elston RC, Tiwari HK, McNamara JO (2005) A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26. Ann Neurol 58:449-458
33. Satishchandra P (2003) Hot-water epilepsy. Epilepsia 44(Suppl 1):29-32
34. Satishchandra P, Shivaramakrishna A, Kaliaperumal VG, Schoenberg BS (1988) Hot water epilepsy: A variant of reflex epilepsy in Southern India. Epilepsia 29:52-56
35. Satishchandra P, Ullal GR, Sinha A, Shankar SK (1999) Pathophysiology and genetics of hot-water epilepsy. In: Bercovic S, Genton P, Marescaux C, Picard F (eds) Genetics of focal epilepsies: Clinical aspects and molecular biology. John Libbey, London, pp 169-176
36. Scheffer I, Berkovic S (1997) Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120:479-490
37. Shaw NJ, Livingston JH, Minns RA, Clarke M (1988) Epilepsy precipitated by bathing. Dev Med Child Neurol 30:108-111
38. Skradski SL, White HS, Ptácek LJ (1998) Genetic mapping of a locus (mass1) causing audiogenic seizures in mice. Genomics 49:188-192
39. Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ (2001) A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron 31:537-544
40. Stensman K, Ursing B (1971) Epilepsy precipitated by hot water immersion. Neurology 21:559-562
41. Szymonowicz W, Meloff KL (1978) Hot-water epilepsy. Can J Neurol Sci 5:247-251
42. Tauer U, Lorenz S, Lenzen KP, Heils A, Muhle H, Gresh M, Neubauer BA, Waltz S, Rudolf G, Mattheisen M, Strauch K, Nurnberg P, Schmitz B, Stephani U, Sander T (2005) Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann Neurol 57:866-873
43. Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA (2005) Sacred disease secrets revealed: The genetics of human epilepsy. Hum Mol Genet 14:2491-2500
44. Ullal GR, Satishchandra P, Shankar SK (1996) Hyperthermic seizures: An animal model for hot-water epilepsy. Seizure 5:221-228
45. Wang P, Saraswati S, Guan Z, Watkins CJ, Wurtman RJ, Littleton JT (2004) A Drosophila temperature-sensitive seizure mutant in phosphoglycerate kinase disrupts ATP generation and alters synaptic function. J Neurosci 24:4518-4529