New mechanism behind infant epilepsy found

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downloadScientists have discovered that mutations in a gene can cause severe early infant epilepsy.

Researchers at Karolinska Institutet and Karolinska University Hospital in Sweden found that mutations in the gene encoding the protein KCC2 can cause infant epilepsy.

Through large-scale genetic analyses of a family with two affected children at SciLifeLab in Stockholm, mutations were identified in the gene encoding the transport protein KCC2.

In a collaboration with scientists at the University College London, another family with children carrying mutations in the same gene was further identified.

Two of the children in each family demonstrated similar symptoms that can be connected to a severe variant of infant epilepsy with MPSI (Migrating Partial Seizures of Infancy).

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