Autoimmune epilepsy in children: Case series and proposed guidelines for identification

Epilepsia

Volumn 54, Issue 6, 2013, Pages 1036-1045

  Suleiman, Jehan ^a   Brilot, Fabienne ^a   Lang, Bethan ^b   Vincent, Angela ^b   Dale, Russell C ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Antibodies; Autoimmune; Epilepsy; FIRES; GAD; NMDAR; Pediatrics; VGKC

Indexed keywords

GLUTAMATE DECARBOXYLASE ANTIBODY; IMMUNOGLOBULIN G; MYCOPHENOLIC ACID; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; RITUXIMAB; STEROID; VOLTAGE GATED POTASSIUM CHANNEL;

ADOLESCENT; ANTI N METHYL D ASPARTATE RECEPTOR ENCEPHALITIS; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE EPILEPSY; BENIGN CHILDHOOD EPILEPSY; CASE STUDY; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; DISEASE CLASSIFICATION; EPILEPSY; FEMALE; HUMAN; IMMUNOTHERAPY; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARANEOPLASTIC NEUROPATHY; PRACTICE GUIDELINE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STEROID THERAPY; TREATMENT RESPONSE;

ADOLESCENT; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILD; CHILD, PRESCHOOL; EPILEPSY; FEMALE; HUMANS; INFANT; LIMBIC ENCEPHALITIS; MALE; PRACTICE GUIDELINES AS TOPIC; SEIZURES;

EID: 84878596510     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12142     Document Type: Article

References (48)

1. Bhagavati S, Maccabee PJ, Chari G,. (2007) Is cerebral involvement an occasional feature of muscle-specific kinase antibody-positive syndrome? Eur J Neurol 14: E21-E22.
2. Bien CG, Vincent A, Barnett MH, Becker AJ, Blumcke I, Graus F, Jellinger KA, Reuss DE, Ribalta T, Schlegel J, Sutton I, Lassmann H, Bauer J,. (2012) Immunopathology of autoantibody-associated encephalitides: clues for pathogenesis. Brain 135: 1622-1638.
3. Boronat A, Sabater L, Saiz A, Dalmau J, Graus F,. (2011) GABA(B) receptor antibodies in limbic encephalitis and anti-GAD-associated neurologic disorders. Neurology 76: 795-800.
4. Castillo PR, Boeve BF, Caselli RJ, Vernino SA, Lucchinetti C, Swanson JW, Noseworthy JH, Aksamit AJ, Flemming KD, Hunder GG, Fatourechi V, Mokri B, Lennon VA,. (2002) Steroid-responsive encephalopathy associated with thyroid autoimmunity: clinical and laboratory findings. Neurology 58: A248.
5. Castillo P, Woodruff B, Caselli R, Vernino S, Lucchinetti C, Swanson J, Noseworthy J, Aksamit A, Carter J, Sirven J, Hunder G, Fatourechi V, Mokri B, Drubach D, Pittock S, Lennon V, Boeve B,. (2006) Steroid-responsive encephalopathy associated with autoimmune thyroiditis. Arch Neurol 63: 197-202.
6. Dale RC, Brilot F, Fagan E, Earl J,. (2009) Cerebrospinal fluid neopterin in paediatric neurology: a marker of active central nervous system inflammation. Dev Med Child Neurol 51: 317-323.
7. Dalmau J, Tuzun E, Wu HY, Masjuan J, Rossi JE, Voloschin A, Baehring JM, Shimazaki H, Koide R, King D, Mason W, Sansing LH, Dichter MA, Rosenfeld MR, Lynch DR,. (2007) Paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma. Ann Neurol 61: 25-36.
8. Dalmau J, Gleichman AJ, Hughes EG, Rossi JE, Peng XY, Lai MZ, Dessain SK, Rosenfeld MR, Balice-Gordon R, Lynch DR,. (2008) Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol 7: 1091-1098.
9. Dalmau J, Lancaster E, Martinez-Hernandez E, Rosenfeld MR, Balice-Gordon R,. (2011) Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis. Lancet Neurol 10: 63-74.
10. Florance NR, Davis RL, Lam C, Szperka C, Zhou L, Ahmad S, Campen CJ, Moss H, Peter N, Gleichman AJ, Glaser CA, Lynch DR, Rosenfeld MR, Dalmau J,. (2009) Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children and adolescents. Ann Neurol 66: 11-18.
11. Haberlandt E, Bast T, Ebner A, Holthausen H, Kluger G, Kravljanac R, Kroll-Seger J, Kurlemann G, Makowski C, Rostasy K, Tuschen-Hofstatter E, Weber G, Vincent A, Bien CG,. (2011) Limbic encephalitis in children and adolescents. Arch Dis Child 96: 186-191.
12. Hacohen YWS, Waters P, Agrawal S, Carr L, Cross H, De Sousa C, DeVile C, Fallon P, Gupta R, Hedderly T, Hughes E, Kerr T, Lascelles K, Lin J-P, Philip S, Pohl K, Prabahkar P, Smith M, Williams R, Clarke A, Hemingway C, Wassmer E, Vincent A, Lim M,. (2012) Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system (CNS) autoantigens. J Neurol Neurosurg Psychiatr. In press.
13. Honnorat J, Saiz A, Giometto B, Vincent A, Brieva L, de Andres C, Maestre J, Fabien N, Vighetto A, Casamitjana R, Thivolet C, Tavolato B, Antoine JC, Trouillas P, Graus F,. (2001) Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies-study of 14 patients. Arch Neurol 58: 225-230.
14. Howell KB, Katanyuwong K, Mackay MT, Bailey CA, Scheffer IE, Freeman JL, Berkovic SF, Harvey AS,. (2012) Long-term follow-up of febrile infection-related epilepsy syndrome. Epilepsia 53: 101-110.
15. Illingworth MA, Hanrahan D, Anderson CE, O'Kane K, Anderson J, Casey M, de Sousa C, Cross JH, Wright S, Dale RC, Vincent A, Kurian MA,. (2011) Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES). Dev Med Child Neurol 53: 1053-1057.
16. Irani SR, Vincent A,. (2011) NMDA receptor antibody encephalitis. Curr Neurol Neurosci Rep 11: 298-304.
17. Irani SR, Alexander S, Waters P, Kleopa KA, Pettingill P, Zuliani L, Peles E, Buckley C, Lang B, Vincent A,. (2010) Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia. Brain 133: 2734-2748.
18. Irani SR, Michell AW, Lang B, Pettingill P, Waters P, Johnson MR, Schott JM, Armstrong RJE, S. Zagami A, Bleasel A, Somerville ER, Smith SMJ, Vincent A, (2011) Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis. Ann Neurol 69: 892-900.
19. Ismail FY, Kossoff EH,. (2011) AERRPS, DESC, NORSE, FIRES: multi-labeling or distinct epileptic entities? Epilepsia 52: E185-E189.
20. Lai MZ, Hughes EG, Peng XY, Zhou L, Gleichman AJ, Shu H, Mata S, Kremens D, Vitaliani R, Geschwind MD, Bataller L, Kalb RG, Davis R, Graus F, Lynch DR, Balice-Gordon R, Dalmau J,. (2009) AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location. Ann Neurol 65: 424-434.
21. Lai M, Huijbers MG, Lancaster E, Graus F, Bataller L, Balice-Gordon R, Cowell JK, Dalmau J,. (2010) Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case series. Lancet Neurol 9: 776-785.
22. Lancaster E, Dalmau J,. (2012) Neuronal autoantigens-pathogenesis, associated disorders and antibody testing. Nat Rev Neurol 8: 380-390.
23. Lancaster E, Lai MZ, Peng XY, Hughes E, Constantinescu R, Raizer J, Friedman D, Skeen MB, Grisold W, Kimura A, Ohta K, Iizuka T, Guzman M, Graus F, Moss SJ, Balice-Gordon R, Dalmau J,. (2010) Antibodies to the GABA(B) receptor in limbic encephalitis with seizures: case series and characterisation of the antigen. Lancet Neurol 9: 67-76.
24. Makatsori M, Manson AL, Verma N, Leandro M, Gurugama P, Longhurst H, Grigoriadou S, Buckland M, Kiani-Alikhan S, Hanson S, Ibrahim MA, Chee R, Kanfer E, Grimbacher B, Seneviratne SL,. (2012) Post-rituximab prolonged hypogammaglobulinemia requiring intravenous immunoglobulin replacement therapy (IVIG). J Clin Immunol 32: 283.
25. Malter MP, Helmstaedter C, Urbach H, Vincent A, Bien CG,. (2010) Antibodies to glutamic acid decarboxylase define a form of limbic encephalitis. Ann Neurol 67: 470-478.
26. Mikaeloff Y, Jambaque 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.
27. Nabbout R, Mazzuca M, Hubert P, Peudennier S, Allaire C, Flurin V, Aberastury M, Silva W, Dulac O,. (2010) Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES). Epilepsia 51: 2033-2037.
28. Nabbout R, Vezzani A, Dulac O, Chiron C,. (2011) Acute encephalopathy with inflammation-mediated status epilepticus. Lancet Neurol 10: 99-108.
29. Niehusmann P, Dalmau J, Rudlowski C, Vincent A, Elger CE, Rossi JE, Bien CG,. (2009) Diagnostic value of N-methyl-D-aspartate receptor antibodies in women with new-onset epilepsy. Arch Neurol 66: 458-464.
30. Reid JM, Foley P, Willison HJ,. (2009) Voltage-gated potassium channel-associated limbic encephalitis in the west of Scotland: case reports and literature review. Scott Med J 54: 27-31.
31. Saiz A, Blanco Y, Sabater L, Gonzalez F, Bataller L, Casamitjana R, Ramio-Torrenta L, Graus F,. (2008) Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain 131: 2553-2563.
32. Sakuma H,. (2009) Acute encephalitis with refractory, repetitive partial seizures. Brain Dev 31: 510-514.
33. 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.
34. Schauble B, Castillo PR, Boeve BF, Westmoreland BF,. (2003) EEG findings in steroid-responsive encephalopathy associated with autoimmune thyroiditis. Clin Neurophysiol 114: 32-37.
35. Schober E, Otto KP, Dost A, Jorch N, Holl R, German Austrian DPVI, Diab BCN. (2012) Association of epilepsy and type 1 diabetes mellitus in children and adolescents: is there an increased risk for diabetic ketoacidosis? J Pediatr 160: 662 -667.
36. Shinnar S, Bello JA, Chan S, Hesdorffer DC, Lewis DV, Macfall J, Pellock JM, Nordli DR, Frank LM, Moshe SL, Gomes W, Shinnar RC, Sun S,. (2012) MRI abnormalities following febrile status epilepticus in children: the FEBSTAT study. Neurology 79: 871-877.
37. Specchio N, Fusco L, Claps D, Vigevano F,. (2010) Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis. Brain Dev 32: 51-56.
38. Su YH, Izumi T, Kitsu M, Fukuyama Y,. (1993) Seizure threshold in juvenile myoclonic epilepsy with graves-disease. Epilepsia 34: 488-492.
39. Suleiman J, Brenner T, Gill D, Brilot F, Antony J, Vincent A, Lang B, Dale RC,. (2011a) VGKC antibodies in pediatric encephalitis presenting with status epilepticus. Neurology 76: 1252-1255.
40. Suleiman J, Brenner T, Gill D, Troedson C, Sinclair AJ, Brilot F, Vincent A, Lang B, Dale RC,. (2011b) Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies. Dev Med Child Neurol 53: 1058-1060.
41. van Baalen A, Hausler 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.
42. van Baalen A, Hausler M, Plecko-Startinig B, Strautmanis J, Vlaho S, Gebhardt B, Rohr A, Abicht A, Kluger G, Stephani U, Probst C, Vincent A, Bien CG,. (2012) Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES. Neuropediatrics 43: 209-216.
43. Vincent A, Crino PB,. (2011) Systemic and neurologic autoimmune disorders associated with seizures or epilepsy. Epilepsia 52: 12-17.
44. Vincent A, Buckley C, Schott JM, Baker I, Dewar BK, Detert N, Clover L, Parkinson A, Bien CG, Omer S, Lang B, Rossor MN, Palace J, Vincent A, Buckley C, Schott JM, Baker I, Dewar B-K, Detert N, Clover L, Parkinson A, Bien CG, Omer S, Lang B, Rossor MN, Palace J,. (2004) Potassium channel antibody-associated encephalopathy: a potentially immunotherapy-responsive form of limbic encephalitis. Brain 127: 701-712.
45. Vincent A, Bien CG, Irani SR, Waters P,. (2011) Autoantibodies associated with diseases of the CNS: new developments and future challenges. Lancet Neurol 10: 759-772.
46. Waites KB, Talkington DF, (2004) Mycoplasma pneumoniae and its role as a human pathogen. Clin Microbiol Rev 17: 697 -728.
47. Wong SH, Saunders MD, Larner AJ, Das K, Hart IK,. (2010) An effective immunotherapy regimen for VGKC antibody-positive limbic encephalitis. J Neurol Neurosurg Psychiatry 81: 1167-1169.
48. Zuliani L, Graus F, Giometto B, Bien C, Vincent A,. (2012) Central nervous system neuronal surface antibody associated syndromes: review and guidelines for recognition. J Neurol Neurosurg Psychiatry 83: 638-645.