Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations

Epilepsia

Volumn 54, Issue 7, 2013, Pages 1288-1297

  Michelucci, Roberto ^a   Pasini, Elena ^a   Malacrida, Sandro ^b   Striano, Pasquale ^c   Bonaventura, Carlo Di ^d   Pulitano, Patrizia ^e   Bisulli, Francesca ^f   Egeo, Gabriella ^d   Santulli, Lia ^g   Sofia, Vito ^h   Gambardella, Antonio ⁱ   Elia, Maurizio ^j   De Falco, Arturo ^k   Neve, Angela La ^l   Banfi, Paola ^m   Coppola, Giangennaro ⁿ   Avoni, Patrizia ^f   Binelli, Simona ^o   Boniver, Clementina ^p   Pisano, Tiziana ^q   Marchini, Marco ^r   Dazzo, Emanuela ^s   Fanciulli, Manuela ^p   Bartolini, Yerma ^a   Riguzzi, Patrizia ^a   Volpi, Lilia ^a   De Falco, Fabrizio A ^k   Giallonardo, Anna Teresa ^d   Mecarelli, Oriano ^e   Striano, Salvatore ^g   Tinuper, Paolo ^f   Nobile, Carlo ^s   more..

^a IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e POLICLINICO UMBERTO I   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h UNIVERSITY OF CATANIA   (Italy)

ⁱ UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^j OASI RESEARCH INSTITUTE IRCCS   (Italy)

^k Loreto Nuovo Hospital   (Italy)

^l UNIVERSITY OF BARI   (Italy)

^m OSPEDALE DI CIRCOLO   (Italy)

ⁿ UNIVERSITY OF SALERNO   (Italy)

^o DEPARTMENT OF NEUROSURGERY   (Italy)

^p Department of Pediatrics Clinical Neurophysiology ^*  (Italy)

^q UNIVERSITY OF FLORENCE   (Italy)

^r CARLO POMA HOSPITAL   (Italy)

^s CNR   (Italy)

more..

Author keywords

Autosomal dominant lateral temporal epilepsy; LGI1; Mutated families; Nonmutated families; Penetrance

Indexed keywords

ANTICONVULSIVE AGENT; DNA; LEUCINE RICH GLIOMA INACTIVATED 1; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANTICONVULSANT THERAPY; APHASIC SEIZURE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY; CHILD; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; DEJA VU; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; ITALY; LATERAL TEMPORAL LOBE EPILEPSY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE; VERTIGO; VISUAL HALLUCINATION;

AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY; LGI1; MUTATED FAMILIES; NONMUTATED FAMILIES; PENETRANCE;

ACOUSTIC STIMULATION; ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY, TEMPORAL LOBE; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PENETRANCE; PHENOTYPE; PROTEINS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84879746323     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12194     Document Type: Article

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