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Mutations in the SLC9A6 gene cause X-linked intellectual disorder causing a X-linked medical disorder linked to mutations in the SLC9A6 gene. The most common complication is a drug-resistant epilepsy. Two instances of CS with drug-resistant epilpesy associated with the Lennox-u2013Gastaut syndrome were reported. Attic seizures have existed since 9 months of age with cognitive decline, which has expanded to include atonic seizures at the age of 7 years. Since the age of 17 months and arrested growth, the second patient had generalized tonic seizures. During slow-wave sleep, epilepticus occurred during slow-wave sleep at the age of 7 years. Our studies show that CS may cause LGS in addition to other developmental and epileptic encephalopathies of the neonatal and infantile period. Potential epilepsy in CS may include generalized tonic or tonic seizures as well as generalized slow wave complexes in interictal EEG.
Source link: https://doi.org/10.1016/j.ebr.2019.100349
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