Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy

Epilepsia

Volumn 52, Issue 7, 2011, Pages 1258-1264

  Di Bonaventura, Carlo ^a   Operto, Francesca F ^b   Busolin, Giorgia ^c   Egeo, Gabriella ^a,d   D'Aniello, Alfredo ^b   Vitello, Libero ^e   Smaniotto, Gessica ^e   Furlan, Sandra ^c   Diani, Erica ^c   Michelucci, Roberto ^f   Giallonardo, Anna Teresa ^a   Coppola, Giangennaro ^b   Nobile, Carlo ^c,e  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c CNR   (Italy)

^d IRCCS SAN RAFFAELE PISANA   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

^f BELLARIA HOSPITAL   (Italy)

Author keywords

Autosomal dominant lateral temporal epilepsy; LGI1; Low penetrance; Mutation; Protein secretion

Indexed keywords

CARBAMAZEPINE; DNA; LAMOTRIGINE; PHENOBARBITAL; VALPROIC ACID;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; ELECTROENCEPHALOGRAPHY; FAMILY HISTORY; FEMALE; FOCAL EPILEPSY; GENE; GENE MUTATION; GRAND MAL SEIZURE; HUMAN; HUMAN CELL; LEUCINE RICH GLIOMA INACTIVATED 1 GENE; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN SECRETION; SEIZURE; TEMPORAL LOBE EPILEPSY;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; BRAIN; CHROMOSOME DISORDERS; ELECTROENCEPHALOGRAPHY; EPILEPSY, TEMPORAL LOBE; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PENETRANCE; PHENOTYPE; PROTEINS; YOUNG ADULT;

EID: 79959933580     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2011.03071.x     Document Type: Article

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