Epilessia familiare del lobo temporale con prevalenti déjà-vu e sintomi psichici, associata a nuova mutazione LGI1 (epitempina)

L. Santulli; M. Pezzella; P. Striano; R. Michelucci; G. Busolin; C. Nobile; S. Striano

Epilessia familiare del lobo temporale con prevalenti déjà-vu e sintomi psichici, associata a nuova mutazione LGI1 (epitempina)

Translated title of the contribution: Familial temporal lobe epilepsy with dominant psychic semiology associated to a novel mutation in LGI1 gene

L. Santulli, M. Pezzella, P. Striano, R. Michelucci, G. Busolin, C. Nobile, S. Striano

Research output: Contribution to journal › Article › peer-review

Abstract

We describe a previously unreported Italian family with ADLTE in which there are two affected individuals. In both of them seizures were characterized by psychic aura without auditory phenomena. A novel mutation in the leucine-rich, glioma-inactivated 1(LGI1) gene (c219C>T) was found. This observation remarks that LGI1 mutations may be found even in familial TLEs without auditory seizures.

Translated title of the contribution	Familial temporal lobe epilepsy with dominant psychic semiology associated to a novel mutation in LGI1 gene
Original language	Italian
Pages (from-to)	106-107
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	140
Publication status	Published - Apr 2010

ASJC Scopus subject areas

Clinical Neurology

Cite this

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title = "Epilessia familiare del lobo temporale con prevalenti d{\'e}j{\`a}-vu e sintomi psichici, associata a nuova mutazione LGI1 (epitempina)",

abstract = "We describe a previously unreported Italian family with ADLTE in which there are two affected individuals. In both of them seizures were characterized by psychic aura without auditory phenomena. A novel mutation in the leucine-rich, glioma-inactivated 1(LGI1) gene (c219C>T) was found. This observation remarks that LGI1 mutations may be found even in familial TLEs without auditory seizures.",

keywords = "ADTLE, Auditory seizures, Genetics, LGI1",

author = "L. Santulli and M. Pezzella and P. Striano and R. Michelucci and G. Busolin and C. Nobile and S. Striano",

year = "2010",

month = apr,

language = "Italian",

pages = "106--107",

journal = "Bollettino - Lega Italiana contro l'Epilessia",

issn = "0394-560X",

publisher = "Lega Italiana contro l'Epilessia",

number = "140",

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TY - JOUR

T1 - Epilessia familiare del lobo temporale con prevalenti déjà-vu e sintomi psichici, associata a nuova mutazione LGI1 (epitempina)

AU - Santulli, L.

AU - Pezzella, M.

AU - Striano, P.

AU - Michelucci, R.

AU - Busolin, G.

AU - Nobile, C.

AU - Striano, S.

PY - 2010/4

Y1 - 2010/4

N2 - We describe a previously unreported Italian family with ADLTE in which there are two affected individuals. In both of them seizures were characterized by psychic aura without auditory phenomena. A novel mutation in the leucine-rich, glioma-inactivated 1(LGI1) gene (c219C>T) was found. This observation remarks that LGI1 mutations may be found even in familial TLEs without auditory seizures.

AB - We describe a previously unreported Italian family with ADLTE in which there are two affected individuals. In both of them seizures were characterized by psychic aura without auditory phenomena. A novel mutation in the leucine-rich, glioma-inactivated 1(LGI1) gene (c219C>T) was found. This observation remarks that LGI1 mutations may be found even in familial TLEs without auditory seizures.

KW - ADTLE

KW - Auditory seizures

KW - Genetics

KW - LGI1

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UR - http://www.scopus.com/inward/citedby.url?scp=77953118314&partnerID=8YFLogxK

M3 - Articolo

AN - SCOPUS:77953118314

SP - 106

EP - 107

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

IS - 140

ER -

Epilessia familiare del lobo temporale con prevalenti déjà-vu e sintomi psichici, associata a nuova mutazione LGI1 (epitempina)

Abstract

ASJC Scopus subject areas

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