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See detailImportin-8 mutations could cause Jeavons Syndrome, CAE and JME by altering early neuroblast migration
Nganou, Gerry ULg; Tanaka, Miyabi; Coumans, Bernard ULg et al

Poster (2016, December)

Jeavons syndrome (JS) is an uncommon form of juvenile epilepsy. In some family affected by JS, the gene of importin-8 (IPO8) a member of karyopherin superfamily of proteins, has been found mutated ... [more ▼]

Jeavons syndrome (JS) is an uncommon form of juvenile epilepsy. In some family affected by JS, the gene of importin-8 (IPO8) a member of karyopherin superfamily of proteins, has been found mutated. Karyopherin are known to regulate nucleo-cytoplasmic transport of many proteins. IPO8, a member of the β-karyopherin sub-family, is reported to control the transport Ago-2, c-Jun and Smad-4 for example, three proteins important for brain development. Here, we show that IPO8 is well expressed in mouse brain at embryonic stage. Moreover inhibition of IPO8 mRNA by shRNA in-utéro-electroporation (IUE), impairs early neuroblast migration as weel as IUE overexpression of mutated form of human IPO8. So, abnormal brain development due to IPO8 mutations could be at the origin of Jeavons Syndrome, Chilhood abscence evolving (CAE) and/or juvenile myoclonic epilepsy (JME). [less ▲]

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See detailMyoclonin1/EFHC1 in cell division, neuroblast migration, synapse/dendrite formation in juvenile myoclonic epilepsy
Grisar, Thierry ULg; Lakaye, Bernard ULg; de Nijs, Laurence ULg et al

in Noebels, JL; Avoli, M; Rogawski, MA (Eds.) et al Jasper's Basic Mechanisms of the Epilepsies, 4th edition (2012)

Detailed reference viewed: 52 (4 ULg)