Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation

Epilepsia

Volumn 52, Issue 11, 2011, Pages

  Specchio, Nicola ^a   Fusco, Lucia ^a   Vigevano, Federico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Acute onset epilepsy; Encephalopathy; Febrile onset; FIRES; PCDH19

Indexed keywords

CADHERIN; CARBAMAZEPINE; CLOBAZAM; ETIRACETAM; IMMUNOGLOBULIN; METHYLPREDNISOLONE; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; PROTOCADHERIN 19; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL FEATURE; CONTINUOUS INFUSION; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEBRILE INFECTION RELATED EPILEPSY SYNDROME; FEMALE; FEVER; GENE MUTATION; HUMAN; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEROLOGY; SEX DIFFERENCE; TREATMENT FAILURE;

CADHERINS; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FEVER; HUMANS; MALE; MUTATION, MISSENSE; SEIZURES, FEBRILE; SYNDROME;

EID: 80255135930     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2011.03193.x     Document Type: Article

References (11)

1. Baxter P, Clarke A, Cross H, Harding B, Hicks E, Livingston J, Surtees R,. (2003) Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status. Seizure 12: 379-387. (Pubitemid 37062767)
2. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J,. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40: 776-781. (Pubitemid 351748867)
3. El Sabbagh S, Lebre AS, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rötig A, Dulac O, Munnich A, Desguerre I,. (2010) Epileptic phenotypes in children with respiratory chain disorders. Epilepsia 51: 1225-1235.
4. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Vigevano F, Specchio N, Battaglia D, Guerrini R,. (2010) Protocadherin 19 mutations in girls with infantile onset epilepsy. Neurology 75: 646-653.
5. Meyer JJ, Bulteau C, Adamsbaum C, Kalifa G,. (1995) Paraneoplastic encephalomyelitis in a child with neuroblastoma. Pediatr Radiol 25 (s1): 99-101.
6. Mikaeloff Y, Jambaqué I, Hertz-Pannier L, Zamfirescu A, Adamsbaum C, Plouin P, Dulac O, Chiron C,. (2006) Devastating epileptic encephalopathy in school-aged children (DESC): a pseudo encephalitis. Epilepsy Res 69: 67-79.
7. Nabbout R, Vezzani A, Dulac O, Chiron C,. (2011) Acute encephalopathy with inflammation-mediated status epilepticus. Lancet Neurol 10: 99-108.
8. Sakuma H, Awaya Y, Shiomi M, Yamanouchi H, Takahashi Y, Saito Y, Sugai K, Sasaki M,. (2010) Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis. Acta Neurol Scand 121: 251-256.
9. Specchio N, Fusco L, Claps D, Trivisano M, Longo D, Cilio MR, Valeriani M, Cusmai R, Cappelletti S, Gentile S, Fariello G, Specchio LM, Vigevano F,. (2010) Childhood refractory focal epilepsy following acute febrile encephalopathy. Eur J Neurol 18: 952-961.
10. Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F,. (2011) Spectrum of phenotypes in females with epilepsy due to protocadherin 19 mutations. Epilepsia doi:.
11. van Baalen A, Häusler M, Boor R, Rohr A, Sperner J, Kurlemann G, Panzer A, Stephani U, Kluger G,. (2010) Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia 51: 1323-1328.