Autosomal dominant lateral temporal epilepsy (ADTLE) is an inherited epileptic syndrome characterized by ictal auditory symptoms or aphasia, negative MRI findings, and relatively benign evolution. Mutations responsible for ADLTE have been found in the LGI1 gene. The functions of the Lgi1 protein apparently are mediated by interactions with members of the ADAM protein family: it binds the postsynaptic receptor ADAM22 to regulate glutamate-AMPA currents at excitatory synapses and also the ADAM23 receptor to promote neurite outgrowth in vitro and dendritic arborization in vivo. Because alteration of each of these neuronal mechanisms may underlie ADLTE, ADAM22 and ADAM23 are candidate genes for this syndrome. In a previous work, we excluded a major role of ADAM22 in the aetiology of ADLTE. Here, we performed linkage analysis between microsatellite markers within or flanking the ADAM23 gene and ADLTE in 13 Italian families. The results exclude ADAM23 as major causative gene for ADLTE.

ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy / Rigon, Laura; Vettori, Andrea; Busolin, Giorgia; Egeo, Gabriella; Pulitano, Patrizia; Santulli, Lia; Pasini, Elena; Striano, Pasquale; la Neve, Angela; Vianello Dri, Valeria; Boniver, Clementina; Gambardella, Antonio; Banfi, Paola; Binelli, Simona; DI BONAVENTURA, Carlo; Striano, Salvatore; de Falco, Fabrizio; Giallonardo, Anna Teresa; Mecarelli, Oriano; Michelucci, Roberto; Nobile, Carlo. - In: EPILEPSY RESEARCH AND TREATMENT. - ISSN 2090-1348. - 2011:(2011), pp. 1-6. [10.1155/2011/258365]

ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy

PULITANO, patrizia;DI BONAVENTURA, Carlo;GIALLONARDO, Anna Teresa;MECARELLI, Oriano;
2011

Abstract

Autosomal dominant lateral temporal epilepsy (ADTLE) is an inherited epileptic syndrome characterized by ictal auditory symptoms or aphasia, negative MRI findings, and relatively benign evolution. Mutations responsible for ADLTE have been found in the LGI1 gene. The functions of the Lgi1 protein apparently are mediated by interactions with members of the ADAM protein family: it binds the postsynaptic receptor ADAM22 to regulate glutamate-AMPA currents at excitatory synapses and also the ADAM23 receptor to promote neurite outgrowth in vitro and dendritic arborization in vivo. Because alteration of each of these neuronal mechanisms may underlie ADLTE, ADAM22 and ADAM23 are candidate genes for this syndrome. In a previous work, we excluded a major role of ADAM22 in the aetiology of ADLTE. Here, we performed linkage analysis between microsatellite markers within or flanking the ADAM23 gene and ADLTE in 13 Italian families. The results exclude ADAM23 as major causative gene for ADLTE.
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ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy / Rigon, Laura; Vettori, Andrea; Busolin, Giorgia; Egeo, Gabriella; Pulitano, Patrizia; Santulli, Lia; Pasini, Elena; Striano, Pasquale; la Neve, Angela; Vianello Dri, Valeria; Boniver, Clementina; Gambardella, Antonio; Banfi, Paola; Binelli, Simona; DI BONAVENTURA, Carlo; Striano, Salvatore; de Falco, Fabrizio; Giallonardo, Anna Teresa; Mecarelli, Oriano; Michelucci, Roberto; Nobile, Carlo. - In: EPILEPSY RESEARCH AND TREATMENT. - ISSN 2090-1348. - 2011:(2011), pp. 1-6. [10.1155/2011/258365]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/910244
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