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De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

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Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia

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Summary: This study reports a novel mutation in the CLDN5 gene associated with alternating hemiplegia with microcephaly. The mutation leads to the conversion of the blood-brain barrier into an anion-selective channel, indicating that CLDN5 associated alternating hemiplegia is a channelopathy.
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