Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

Epilepsy Research

Volumn 110, Issue , 2015, Pages 132-138

  Dazzo, Emanuela ^a   Santulli, Lia ^b   Posar, Annio ^c   Fattouch, Jinane ^d   Conti, Sara ^c   Lodén van Straaten, Martin ^e   Mijalkovic, Jona ^e   De Bortoli, Marzia ^f   Rosa, Maurizio ^f   Millino, Caterina ^f   Pacchioni, Beniamina ^f   Di Bonaventura, Carlo ^d   Giallonardo, Anna Teresa ^d   Striano, Salvatore ^b   Striano, Pasquale ^g   Parmeggiani, Antonia ^c   Nobile, Carlo ^a  

^a CNR   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c BELLARIA HOSPITAL   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e MRC HOLLAND   (Netherlands)

^f UNIVERSITY OF PADOVA   (Italy)

^g UNIVERSITY OF GENOA   (Italy)

Author keywords

LGI1; Microdeletion; Mutation; Temporal lobe epilepsy; Visual aura

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; EPILEPTIC AURA; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE REARRANGEMENT; GENE SEQUENCE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ITALIAN (CITIZEN); LATERAL TEMPORAL LOBE EPILEPSY; LGI1 GENE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; SCHOOL CHILD; YOUNG ADULT; BRAIN; FAMILY; FRONTAL LOBE EPILEPSY; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SLEEP DISORDER; TEMPORAL LOBE EPILEPSY;

LGI1 PROTEIN, HUMAN; PROTEIN;

AGED; BRAIN; DNA COPY NUMBER VARIATIONS; EPILEPSY, FRONTAL LOBE; EPILEPSY, TEMPORAL LOBE; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROTEINS; SEQUENCE DELETION; SLEEP DISORDERS; YOUNG ADULT;

EID: 84921319112     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2014.12.004     Document Type: Article

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