Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.

Zollino, M., Orteschi, D., Ruiter, M., Pfundt, R., Steindl, K., Cafiero, C., Ricciardi, S., Contaldo, I., Chieffo, D. P. R., Ranalli, D., Acquafondata, C., Murdolo, M., Marangi, G., Asaro, A., Battaglia, D. I., Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder, <<EPILEPSIA>>, 2014; 55 (6): 849-857. [doi:10.1111/epi.12617] [https://hdl.handle.net/10807/64780]

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder

Zollino, Marcella;Orteschi, Daniela;Cafiero, Concetta;Ricciardi, Stefania;Contaldo, Ilaria;Chieffo, Daniela Pia Rosaria;Ranalli, Domiziana;Acquafondata, Celeste;Murdolo, Marina;Marangi, Giuseppe;Asaro, Alessia;Battaglia, Domenica Immacolata
2014

Abstract

Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.
2014
Inglese
Zollino, M., Orteschi, D., Ruiter, M., Pfundt, R., Steindl, K., Cafiero, C., Ricciardi, S., Contaldo, I., Chieffo, D. P. R., Ranalli, D., Acquafondata, C., Murdolo, M., Marangi, G., Asaro, A., Battaglia, D. I., Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder, <<EPILEPSIA>>, 2014; 55 (6): 849-857. [doi:10.1111/epi.12617] [https://hdl.handle.net/10807/64780]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/64780
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