Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene

Epilepsy Research

Volumn 108, Issue 8, 2014, Pages 1274-1278

  Guerrero López, Rosa ^a,b   Ortega Moreno, Laura ^a,b   Giráldez, Beatriz G ^a,b   Alarcón Morcillo, Cristina ^a,b   Sánchez Martín, Gema ^a,b   Nieto Barrera, Manuel ^c   Gutiérrez Delicado, Eva ^a,b   Gómez Garre, Pilar ^a,b   Martínez Bermejo, Antonio ^d   García Peñas, Juan J ^e   Serratosa, José M ^a,b  

^a UAM)   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

Author keywords

Epilepsy; Genetics; Infantile convulsions; Learning difficulties

Indexed keywords

ANTICONVULSIVE AGENT; ARGININE; DNA; GLUTAMINE; MEMBRANE PROTEIN; MESSENGER RNA; PROLINE; PROLINE RICH TRANSMEMBRANE PROTEIN 2; THREONINE; UNCLASSIFIED DRUG; VALINE; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CLINICAL FEATURE; DISEASE COURSE; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HEMIPARESIS; HETEROZYGOSITY; HUMAN; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRRT2 GENE; RECURRENT DISEASE; SCHOOL CHILD; SEQUENCE ANALYSIS; SPAIN; EPILEPSY, BENIGN NEONATAL; FOLLOW UP; GENETICS; MUTATION; PEDIGREE; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EPILEPSY, BENIGN NEONATAL; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SPAIN; YOUNG ADULT;

EID: 84906933584     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2014.06.011     Document Type: Article

References (16)

1. Cao L., Huang X.J., Zheng L., Xiao Q., Wang X.J., Chen S.D. Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot. Parkinsonism Relat. Disord. 2012, 18(5):704-706.
2. Chen W.J., Lin Y., Xiong Z.Q., Wei W., Ni W., Tan G.H., Guo S.L., He J., Chen Y.F., Zhang Q.J., Li H.F., Murong S.X., Xu J., Wang N., Wu Z.Y. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat. Genet. 2011, 43(12):1252-1255.
3. 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 S.W., Fu Y.H., Rochette J., Ptacek L.J., Szepetowski P. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012, 79(21):2097-2103.
4. Dale R.C., 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(10):958-960.
5. Djemie T., Weckhuysen S., Holmgren P., Hardies K., Van Dyck T., Hendrickx R., Schoonjans A.S., Van Paesschen W., Jansen A.C., De Meirleir L., Selim L.A., Girgis M.Y., Buyse G., Lagae L., Smets K., Smouts I., Claeys K.G., Van den Bergh V., Grisar T., Blatt I., Shorer Z., Roelens F., Afawi Z., Helbig I., Ceulemans B., De Jonghe P., Suls A. PRRT2 mutations: exploring the phenotypical boundaries. J. Neurol. Neurosurg. Psychiatry 2014, 85(4):462-465.
6. 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(3):280-284.
7. Labate A., Tarantino P., Viri M., Mumoli L., Gagliardi M., Romeo A., Zara F., Annesi G., Gambardella A. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. Epilepsia 2012, 53(12):e196-e199.
8. Liu Q., Qi Z., Wan X.H., Li J.Y., Shi L., Lu Q., Zhou X.Q., Qiao L., Wu L.W., Liu X.Q., Yang W., Liu Y., Cui L.Y., Zhang X. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J. Med. Genet. 2012, 49(2):79-82.
9. 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(21):2109-2114.
10. 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 C.P., 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(2):170-174.
11. Najmabadi H., Hu H., Garshasbi M., Zemojtel T., Abedini S.S., Chen W., Hosseini M., Behjati F., Haas S., Jamali P., Zecha A., Mohseni M., Puttmann L., Vahid L.N., Jensen C., Moheb L.A., Bienek M., Larti F., Mueller I., Weissmann R., Darvish H., Wrogemann K., Hadavi V., Lipkowitz B., Esmaeeli-Nieh S., Wieczorek D., Kariminejad R., Firouzabadi S.G., Cohen M., Fattahi Z., Rost I., Mojahedi F., Hertzberg C., Dehghan A., Rajab A., Banavandi M.J., Hoffer J., Falah M., Musante L., Kalscheuer V., Ullmann R., Kuss A.W., Tzschach A., Kahrizi K., Ropers H.H. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011, 478(7367):57-63.
12. Schubert J., Paravidino R., Becker F., Berger A., Bebek N., Bianchi A., Brockmann K., Capovilla G., Dalla Bernardina B., Fukuyama Y., Hoffmann G.F., Jurkat-Rott K., Anttonen A.K., Kurlemann G., Lehesjoki A.E., 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., Turkdogan D., Vigevano F., Viri M., Bauer P., Zara F., Lerche H., Weber Y.G. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum. Mutat. 2012, 33(10):1439-1443.
13. Szepetowski P., Rochette J., Berquin P., Piussan C., Lathrop G.M., Monaco A.P. 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(4):889-898.
14. 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(8):777-784.
15. Vigevano F., Fusco L., Di Capua M., Ricci S., Sebastianelli R., Lucchini P. Benign infantile familial convulsions. Eur. J. Pediatr. 1992, 151(8):608-612.
16. 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 B.D., Fusco L., Gaggero R., Giordano L., Guerrini R., Incorpora G., Mastrangelo M., Spaccini L., Laverda A.M., Vecchi M., Vanadia F., Veggiotti P., Viri M., Occhi G., Budetta M., Taglialatela M., Coviello D.A., Vigevano F., Minetti C. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013, 54(3):425-436.