Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

Neurology

Volumn 71, Issue 1, 2008, Pages 64-66

  Godfraind, C ^c   Coutelier, M ^a   Andries, S ^c   Ghariani, S ^c   Dan, B ^d   Duyckaerts, C ^e   Van Rijckevorsel, K ^h   Raftopoulos, C ^b   Deconinck, N ^d   Sonderegger, P ^f   Scaravilli, F ^g   Vikkula, M ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^d HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY OF ZURICH   (Switzerland)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h Université Catholique de Louvain ^*

Author keywords

[No Author keywords available]

Indexed keywords

BENZODIAZEPINE DERIVATIVE; CORTICOSTEROID; ETHOSUXIMIDE; ETIRACETAM; NEUROSERPIN; TOPIRAMATE; VALPROIC ACID; NEUROPEPTIDE; SERINE PROTEINASE INHIBITOR;

AGGRESSION; ARTICLE; BRAIN SURGERY; CASE REPORT; CHILD; COGNITIVE DEFECT; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC STATE; EXON; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MYOCLONUS; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SLOW WAVE SLEEP; TREATMENT OUTCOME; AMINO ACID SUBSTITUTION; BRAIN; CELL INCLUSION; DRUG RESISTANCE; ELECTROENCEPHALOGRAPHY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; NERVE CELL; NEUROSURGERY; PATHOLOGY; PATHOPHYSIOLOGY; SLEEP; SLEEP DISORDER;

AMINO ACID SUBSTITUTION; BRAIN; CHILD; DRUG RESISTANCE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCLUSION BODIES; MUTATION; NEURONS; NEUROPEPTIDES; NEUROSURGICAL PROCEDURES; SERPINS; SLEEP; SLEEP DISORDERS; STATUS EPILEPTICUS; TREATMENT OUTCOME;

EID: 48249141468     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000316306.08751.28     Document Type: Article

References (7)

1. Davis RL, Shrimpton AE, Carrell RW, et al. Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet 2002;359:2242-2247.
2. Lomas DA, Carrell RW. Serpinopathies and the confor-mational dementias. Nat Rev Genet 2002;3:759-768.
3. Stoeckli ET, Lemkin PF, Kuhn TB, Ruegg MA, Heller M, Sonderegger P. Identification of proteins secreted from ax-ons of embryonic dorsal-root-ganglia neurons. Eur J Bio-chem 1989;180:249-258.
4. Gourfinkel-An I, Duyckaerts C, Camuzat A, et al. Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. Neurology 2007;69:79-83.
5. Takano K, Kitao Y, Inagi R, et al. A rat model of human FENIB (familial encephalopathy with neuroserpin inclusion bodies). Biochem Biophys Res Commun 2006;346:1040-1047.
6. Miranda E, Lomas DA. Neuroserpin: a serpin to think about. Cell Mol Life Sci 2006;63:709-722.
7. Guerrini R. Epilepsy in children. Lancet 2006;367:499-524.