PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Neurology

Volumn 79, Issue 21, 2012, Pages 2104-2108

  Scheffer, Ingrid E ^a,b   Grinton, Bronwyn E ^b   Heron, Sarah E ^c   Kivity, Sara ^d   Afawi, Zaid ^e   Iona, Xenia ^c   Goldberg Stern, Hadassa ^d   Kinali, Maria ^f   Andrews, Ian ^g   Guerrini, Renzo ^h   Marini, Carla ⁱ   Sadleir, Lynette G ^j   Berkovic, Samuel F ^b   Dibbens, Leanne M ^c  

^a FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^d SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

^f CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^g SYDNEY CHILDREN'S HOSPITAL   (Australia)

^h DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

ⁱ UNIVERSITY OF FLORENCE   (Italy)

^j UNIVERSITY OF OTAGO   (New Zealand)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHOREOATHETOSIS; CLINICAL ARTICLE; DISEASE ASSOCIATION; FAMILY HISTORY; FEBRILE CONVULSION; FRAMESHIFT MUTATION; GASTROENTERITIS; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; INFANTILE CONVULSION AND CHOREOATHETOSIS; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; ONSET AGE; PAROXYSMAL KINESIGENIC DYSKINESIA; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PRRT2 GENE;

EID: 84871280770     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182752c6c     Document Type: Article

References (19)

1. Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2011;1:1-11.
2. Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-160.
3. Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134:3490-3498.
4. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255.
5. Li J, Zhu X, Wang X, et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 2012;49:76-78.
6. Liu Q, Qi Z, Wan XH, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 2012;49:79-82.
7. Fukuyama Y. Borderland of childhood epilepsy, with special references to febrile convulsions and so-called infantile convulsions. Seishin Igaku 1963;5:211-223.
8. Vigevano F, Fusco L, Di Capua M, Ricci S, Sebastianelli R, Lucchini P. Benign infantile familial convulsions. Eur J Pediatr 1992;151:608-612.
9. Vigevano F. Benign familial infantile seizures. Brain Dev 2005;27:172-177.
10. Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004;63:2280-2287.
11. Morooka K. Convulsions and mild diarrhea (in Japanese). Shonika 1982;23:131-137.
12. Uemura N, Okumura A, Negoro T, Watanabe K. Clinical features of benign convulsions with mild gastroenteritis. Brain Dev 2002;24:745-749.
13. Saadeldin IY. Electroclinical features of benign infantile seizures with mild gastroenteritis. Epileptic Disord 2011; 13:8-17.
14. Reutens DC, Howell RA, Gebert KE, Berkovic SF. Validation of a questionnaire for clinical seizure diagnosis. Epilepsia 1992;33:1065-1071.
15. Singh R, Macdonell RA, Scheffer IE, Crossland KM, Berkovic SF. Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms. Epileptic Disord 1999;1:93-99.
16. Caraballo RH, Cersosimo RO, Espeche A, Fejerman N. Benign familial and non-familial infantile seizures: a study of 64 patients. Epileptic Disord 2003;5:45-49.
17. Saadeldin IY, Housawi Y, Al Nemri A, Al Hifzi I. Benign familial and non-familial infantile seizures (Fukuyama-Watanabe-Vigevano syndrome): a study of 14 cases from Saudi Arabia. Brain Dev 2010;32:378-384.
18. Espeche A. Benign infantile seizures: a prospective study. Epilepsy Res 2010;89:96-103.
19. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490.