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Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, vant Hoff W, Antignac C (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Not surprisingly, many of these syndromic disorders/epilepsies are co-morbid with autism spectrum disorders (ASD), where oxidative stress is a major driver of early synaptic alterations and neuroinflammation (Aguiar et al., 2012

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