Author(s): Marafi, Dana
Seizures belong to the phenotypic spectrum of multiple rare diseases. The underlying pathophysiology is rarely understood. For a novel seizure syndrome, transmembrane transport of certain amino acids has now been identified as the primary impaired cellular process.
Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain amino acids could now be identified as the primarily defective cellular process. These findings, to which CENTOGENE contributed critical genetic data, were published in Brain.
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