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    Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review by Rory Edwards, Grace Murphy, Joshua W. Owens, Craig Erickson, Robert Hopkin, Amelle Shillington

    Published 2025-01-01
    “…She has never been diagnosed with epilepsy; however, her DEPDC5 and FXS dual diagnosis was thought explanatory for her presentation. …”
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    Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene by Madhura Milind Nimonkar, Ramya Sukrutha, Kenchaiah Raghavendra, Hansashree Padmanabha, Ghati K. Chetan, Bhupesh Mehta, Yogananda S. Markandeya, Gautham Arunachal

    Published 2025-10-01
    “…We report successful characterisation of the iPSC line NIMHi012-A, generated from the PBMCs of a patient with generalized epilepsy with febrile seizures plus (GEFS+). The mycoplasma-free cells expressed pluripotency markers, showed trilineage differentiation potential and had a normal karyotype. …”
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