Article: X-linked West Syndrome and mental retardation

Abstract.

X-linked infantile spasms associated with mental retardation have been recognized as a syndrome with an identified gene: ARX. We report a family with eight affected males. Mental retardation was present in all, seven also had epilepsy. In the index case, onset took place in the form of West syndrome. The index case was a boy now six years of age, born from healthy non-consanguineous parents who started at age one month with focal seizures associated with fever. His younger brother had a similar onset. We were not able to examine the other affected males of the family and diagnosis of their type of epilepsy could not be defined. In the first case, the electroencephalogram (EEG) at ...

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