Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: Electroclinical, genetic, and EEG/fMRI findings

Epilepsia

Volumn 50, Issue 11, 2009, Pages 2481-2486

  Bonaventura, Carlo Di ^a   Carni, Marco ^b,c,d   Diani, Erica ^e   Fattouch, Jinane ^a   Vaudano, Elisabetta A ^a   Egeo, Gabriella ^a,f   Pantano, Patrizia ^a   Maraviglia, Bruno ^b,c   Bozzao, Luigi ^a   Manfredi, Mario ^a,b   Prencipe, Massimiliano ^a   Giallonardo, Teresa A ^a   Nobile, Carlo ^e  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c MUSEO STORICO DELLA FISICA E CENTRO STUDI E RICERCHE ENRICO FERMI   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e CNR   (Italy)

^f IRCCS SAN RAFFAELE PISANA   (Italy)

Author keywords

ADLTE; EEG fMRI; LGI1 Epitempin

Indexed keywords

ACETAZOLAMIDE; BARBEXACLONE; CARBAMAZEPINE; ETIRACETAM; GLUTAMIC ACID; LYSINE; PHENOBARBITAL; PHENYTOIN; PREGABALIN; PRIMIDONE; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY; CASE REPORT; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; FEMALE; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; ITALY; LGI1 GENE; MALE; PRIORITY JOURNAL; RECURRENT DISEASE; TEMPORAL LOBE EPILEPSY;

ADULT; AGED; ANTICONVULSANTS; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; ELECTROENCEPHALOGRAPHY; EPILEPSY, TEMPORAL LOBE; EXONS; FAMILY; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; PROTEINS; STATUS EPILEPTICUS; TEMPORAL LOBE; VIDEO RECORDING;

EID: 70350401139     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2009.02181.x     Document Type: Article

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