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However, all groups had improvement in RBANS score between the time of screening and baseline visits (at 1 week), even before randomization

To overcome these troubles, we and two other teams identified the causative gene which was called OCTN2 historically, now known as SLC22A5, around the same time in 1999.3-5 The discovery allows making use of a simple DNA mutation test to make a definitive diagnosis

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As one mutant with residual function would be sufficient to support the cell function in recessive disease, it does not matter which mutant is found on the other chromosome

Macdonald Ian A