Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

BMC Neurology

Volumn 13, Issue , 2013, Pages

  Yang, Xiaoling ^a   Zhang, Yuehua ^a   Xu, Xiaojing ^a   Wang, Shuang ^a   Yang, Zhixian ^a   Wu, Ye ^a   Liu, Xiaoyan ^a   Wu, Xiru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Benign familial infantile epilepsy; Infantile convulsions with paroxysmal choreoathetosis; Mutation; Phenotype; PRRT2

Indexed keywords

PROTEIN; PRRT2 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; BENIGN FAMILIAL INFANTILE EPILEPSY; CARBOXY TERMINAL SEQUENCE; CHILD; CHINESE; CHOREOATHETOSIS; CLINICAL ARTICLE; CONVULSION; FAMILY; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; MALE; MIGRAINE; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; CHOREA; EPILEPSY, BENIGN NEONATAL; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE;

EID: 84890960002     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-13-209     Document Type: Article

References (48)

1. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010, 51:676-685. 10.1111/j.1528-1167.2010.02522.x, 20196795.
2. Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:796-803. 10.1046/j.1528-1157.2001.10401.x, 11422340.
3. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997, 61:889-898. 10.1086/514877, 1715981, 9382100.
4. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995, 38:571-579. 10.1002/ana.410380405, 7574453.
5. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011, 43:1252-1255. 10.1038/ng.1008, 22101681.
6. Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012, 90:152-160. 10.1016/j.ajhg.2011.12.003, 3257886, 22243967.
7. Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011, 134:3493-3501. 10.1093/brain/awr289, 3235563, 22120146.
8. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Muller U, Nespeca MP, Renner D, Rochette J, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012, 1:2-12.
9. Vigevano F, Fusco L, Di Capua M, Ricci S, Sebastianelli R, Lucchini P. Benign infantile familial convulsions. Eur J Pediatr 1992, 151:608-612. 10.1007/BF01957732, 1505581.
10. Okumura A, Hayakawa F, Kato T, Kuno K, Negoro T, Watanabe K. Early recognition of benign partial epilepsy in infancy. Epilepsia 2000, 41:714-717. 10.1111/j.1528-1157.2000.tb00233.x, 10840404.
11. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004, 63:2280-2287. 10.1212/01.WNL.0000147298.05983.50, 15623687.
12. Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Muller S, Neubauer B, Pust B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, et al. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat 2012, 33:1439-1443. 10.1002/humu.22126, 22623405.
13. Meneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Durr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette De Villemeur T, Vidailhet M, Brice A, Roze E. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012, 79:170-174. 10.1212/WNL.0b013e31825f06c3, 22744660.
14. Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 2012, 57:338-341. 10.1038/jhg.2012.23, 22399141.
15. van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, Verschuuren-Bemelmans C, Boon M, Samijn J, Diderich K, van de Laar I, Oostra B, Bonifati V, Maat-Kievit A. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 2012, 79:777-784. 10.1212/WNL.0b013e3182661fe3, 22875091.
16. de Vries B, Callenbach PM, Kamphorst JT, Weller CM, Koelewijn SC, ten Houten R, de Coo IF, Brouwer OF, van den Maagdenberg AM. PRRT2 mutation causes benign familial infantile convulsions. Neurology 2012, 79:2154-2155. 10.1212/WNL.0b013e3182752c30, 23077019.
17. Marini C, Conti V, Mei D, Battaglia D, Lettori D, Losito E, Bruccini G, Tortorella G, Guerrini R. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012, 79:2109-2114. 10.1212/WNL.0b013e3182752ca2, 3511926, 23077026.
18. Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology 2012, 79:2104-2108. 10.1212/WNL.0b013e3182752c6c, 3511925, 23077018.
19. Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptacek LJ, Szepetowski P. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012, 79:2097-2103. 10.1212/WNL.0b013e3182752c46, 3511924, 23077017.
20. Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012, 79:2115-2121. 10.1212/WNL.0b013e3182752c5a, 3511930, 23077024.
21. Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou XQ, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 2012, 49:79-82. 10.1136/jmedgenet-2011-100653, 22209761.
22. Riant F, Roze E, Barbance C, Meneret A, Guyant-Marechal L, Lucas C, Sabouraud P, Trebuchon A, Depienne C, Tournier-Lasserve E. PRRT2 mutations cause hemiplegic migraine. Neurology 2012, 79:2122-2124. 10.1212/WNL.0b013e3182752cb8, 23077016.
23. Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F. PRRT2 is mutated in familial and non-familial benign infantile seizures. Eur J Paediatr Neurol 2013, 17:77-81. 10.1016/j.ejpn.2012.07.006, 22902423.
24. Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S. Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. Brain Dev 2013, 35:524-530. 10.1016/j.braindev.2012.09.006, 23073245.
25. Groffen AJ, Klapwijk T, van Rootselaar AF, Groen JL, Tijssen MA. Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. J Neurol 2013, 260:93-99. 10.1007/s00415-012-6592-5, 3535363, 22752065.
26. Tan LC, Methawasin K, Teng EW, Ng AR, Seah SH, Au WL, Liu JJ, Foo JN, Zhao Y, Tan EK. Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. Eur J Neurol 2013, in press.
27. Lee YC, Lee MJ, Yu HY, Chen C, Hsu CH, Lin KP, Liao KK, Chang MH, Liao YC, Soong BW. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLoS One 2012, 7:e38543. 10.1371/journal.pone.0038543, 3409860, 22870186.
28. Steinlein OK, Villain M, Korenke C. The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions. Seizure 2012, 21:740-742. 10.1016/j.seizure.2012.07.006, 22877996.
29. Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013, 54:425-436. 10.1111/epi.12089, 23360469.
30. Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, Zhang MP, Li WB, Mao X, Qin JM, Li BM, Tang B, Deng YH, Shi YW, Su T, Yi YH, Tang BS, Liao WP. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav 2013, 12:234-240. 10.1111/gbb.12008, 23190448.
31. Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Muller S, Heussinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schols L, Warner T, Munchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG. PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol 2013, 260:1234-1244. 10.1007/s00415-012-6777-y, 23299620.
32. van Strien TW, van Rootselaar AF, Hilgevoord AA, Linssen WH, Groffen AJ, Tijssen MA. Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin. Parkinsonism Relat Disord 2012, 18:645-648. 10.1016/j.parkreldis.2012.03.006, 22464846.
33. Silveira-Moriyama L, Gardiner AR, Meyer E, King MD, Smith M, Rakshi K, Parker A, Mallick AA, Brown R, Vassallo G, Jardine PE, Guerreiro MM, Lees AJ, Houlden H, Kurian MA. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol 2013, 55:327-334. 10.1111/dmcn.12056, 23363396.
34. Uemura N, Okumura A, Negoro T, Watanabe K. Clinical features of benign convulsions with mild gastroenteritis. Brain Dev 2002, 24:745-749. 10.1016/S0387-7604(02)00097-9, 12453597.
35. Verrotti A, Nanni G, Agostinelli S, Parisi P, Capovilla G, Beccaria F, Iannetti P, Spalice A, Coppola G, Franzoni E, Gentile V, Casellato S, Veggiotti P, Malgesini S, Crichiutti G, Balestri P, Grosso S, Zamponi N, Incorpora G, Savasta S, Costa P, Pruna D, Chiarelli F. Benign convulsions associated with mild gastroenteritis: a multicenter clinical study. Epilepsy Res 2011, 93:107-114. 10.1016/j.eplepsyres.2010.11.004, 21146369.
36. Hung JJ, Wen HY, Yen MH, Chen HW, Yan DC, Lin KL, Lin SJ, Lin TY, Hsu CY. Rotavirus gastroenteritis associated with afebrile convulsion in children: clinical analysis of 40 cases. Chang Gung Med J 2003, 26:654-659.
37. Chen SY, Tsai CN, Lai MW, Chen CY, Lin KL, Lin TY, Chiu CH. Norovirus infection as a cause of diarrhea-associated benign infantile seizures. Clin Infect Dis 2009, 48:849-855. 10.1086/597256, 19239351.
38. Li T, Hong S, Peng X, Cheng M, Jiang L. Benign infantile convulsions associated with mild gastroenteritis: An electroclinical study of 34 patients. Seizure 2013, in press.
39. Okumura A, Watanabe K, Negoro T, Hayakawa F, Kato T, Maruyama K, Kubota T, Suzuki M, Kurahashi H, Azuma Y. Long-term follow-up of patients with benign partial epilepsy in infancy. Epilepsia 2006, 47:181-185. 10.1111/j.1528-1167.2006.00385.x, 16417547.
40. Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T. PRRT2 mutation in Japanese children with benign infantile epilepsy. Brain Dev 2013, 35:641. 646, 10.1016/j.braindev.2012.09.015, 23131349.
41. Dale RC, Grattan-Smith P, Nicholson M, Peters GB. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol 2012, 54:618-623. 10.1111/j.1469-8749.2012.04287.x, 22515636.
42. Dale RC, Gardiner A, Antony J, Houlden H. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 2012, 54:958-960. 10.1111/j.1469-8749.2012.04394.x, 22845787.
43. Sheerin UM, Stamelou M, Charlesworth G, Shiner T, Spacey S, Valente EM, Wood NW, Bhatia KP. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol 2013, 260:656-660. 10.1007/s00415-012-6747-4, 23180180.
44. Verrotti A, Coppola G, Spalice A, Di Fonzo A, Bruschi R, Tozzi E, Iannetti P, Villa MP, Parisi P. Peri-ictal and inter-ictal headache in children and adolescents with idiopathic epilepsy: a multicenter cross-sectional study. Childs Nerv Syst 2011, 27:1419-1423. 10.1007/s00381-011-1428-7, 21445630.
45. Labate A, Tarantino P, Palamara G, Gagliardi M, Cavalcanti F, Ferlazzo E, Sturniolo M, Incorpora G, Annesi G, Aguglia U, Gambardella A. Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. Epilepsy Res 2013, 104:280-284. 10.1016/j.eplepsyres.2012.10.014, 23352743.
46. Castiglioni C, Lopez I, Riant F, Bertini E, Terracciano A. PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. Eur J Paediatr Neurol 2013, 17:254-258. 10.1016/j.ejpn.2012.10.010, 23182655.
47. Waruiru C, Appleton R. Febrile seizures: an update. Arch Dis Child 2004, 89:751-756. 10.1136/adc.2003.028449, 1720014, 15269077.
48. Rochette J, Roll P, Fu YH, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disord 2010, 12:199-204.