Article
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2009
Stam A H, Luijckx G-J, Poll-Thé B T, Ginjaar I B, Frants R R, Haan J, Ferrari M D, Terwindt G M, van den Maagdenberg A M J M
Abstract excerpt
OBJECTIVE: To study the clinical spectrum of CACNA1A S218L mutation carriers with special attention to "early seizures and cerebral oedema after trivial head trauma (ESCEATHT)", a combination of symptoms which resembles the "juvenile head trauma syndrome". PATIENTS AND METHODS: In two patients with ESCEATHT all exons of CACNA1A were sequenced. Both patients also had hemiplegic migraine and ataxia. Subsequently,...
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