Dataset related to article "Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation"
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Descrizione: In 2012, we published the clinical case of a child with epilepsy and NREM-parasomnia of unknown cause. The boy, now aged 16 years old. In the suspicion of a genetic cause, the patient underwent to karyotype and CGH array that resulted unrevealing. 3-Tesla brain MRI was normal. Recently, the NGS analysis with a genetic panel for the screening of genes involved in epilepsy, identified the novel hemizygous missense variant c.1486G > A (p.Glu496Lys) in the X-linked ARHGEF9 gene (NM_015185.2, NP_056000.1)
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Zenodo创建时间：
2021-03-25
