Autosomal dominant lateral temporal epilepsy (ADLTE): Absence of chromosomal rearrangements in LGI1 gene

Epilepsy Research

Volumn 108, Issue 3, 2014, Pages 597-599

  Manna, Ida ^a   Mumoli, Laura ^b   Labate, Angelo ^b,c   Citrigno, Luigi ^a   Ferlazzo, Edoardo ^b,d   Aguglia, Umberto ^b,d   Quattrone, Aldo ^b,c   Gambardella, Antonio ^a,b  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c CNR   (Italy)

^d Hospital of Reggio Calabria   (Italy)

Author keywords

Autosomal dominant lateral temporal epilepsy; Gene rearrangement; LGI1 gene; Multiplex ligation dependent probe amplification; Mutation analysis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY; CAUCASIAN; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HUMAN CELL; ITALY; LGI1 GENE; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; TEMPORAL LOBE EPILEPSY;

AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY; GENE REARRANGEMENT; LGI1 GENE; MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION; MUTATION ANALYSIS;

CHROMOSOME ABERRATIONS; DNA MUTATIONAL ANALYSIS; EPILEPSY, FRONTAL LOBE; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MALE; PROTEINS; SLEEP DISORDERS;

EID: 84895466672     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2013.11.011     Document Type: Article

References (7)

1. Fanciulli M., Santulli L., Errichiello L., Barozzi C., Tomasi L., Rigon L., Cubeddu T., de Falco A., Rampazzo A., Michelucci R., Uzzau S., Striano S., de Falco F.A., Striano P., Nobile C. LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. Neurology 2012, 78:1299-1303.
2. Ishida S., Picard F., Rudolf G., Noé E., Achaz G., Thomas P., Genton P., Mundwiller E., Wolff M., Marescaux C., Miles R., Baulac M., Hirsch E., Leguern E., Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat. Genet. 2013, 45:552-555.
3. Labate A., Ventura P., Gambardella A., Le Piane E., Colosimo E., Leggio U., Ambrosio R., Condino F., Messina D., Lanza P., Aguglia U., Quattrone A. MRI evidence of mesial temporal sclerosis in sporadic benign temporal lobe epilepsy. Neurology 2006, 66:562-565.
4. Labate A., Cerasa A., Gambardella A., Aguglia U., Quattrone A. Hippocampal and thalamic atrophy in mild temporal lobe epilepsy: a VBM study. Neurology 2008, 71:1094-1101.
5. Michelucci R., Pasini E., Malacrida S., Striano P., Bonaventura C.D., Pulitano P., Bisulli F., Egeo G., Santulli L., Sofia V., Gambardella A., Elia M., de Falco A., La Neve A., Banfi P., Coppola G., Avoni P., Binelli S., Boniver C., Pisano T., Marchini M., Dazzo E., Fanciulli M., Bartolini Y., Riguzzi P., Volpi L., de Falco F.A., Giallonardo A.T., Mecarelli O., Striano S., Tinuper P., Nobile C. Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations. Epilepsia 2013, 54:1288-1297.
6. Nobile C., Michelucci R., Andreazza S., Pasini E., Tosatto S.C., Striano P. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum. Mutat. 2009, 30:530-536.
7. Ottman R., Winawer M.R., Kalachikov S., Barker-Cummings C., Gilliam T.C., Pedley T.A., Hauser W.A. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2004, 62:1120-1126.