Search Results - "Soussi Zander, C."

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development by Thuresson, A‐C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton Smith, J., Soussi Zander, C.

“…Duplications at 2q24.3 encompassing the voltage‐gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the…”
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Mutations in HECW2 are associated with intellectual disability and epilepsy by Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Feuk, Lars

“…De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and…”
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