Early seizures and cerebral edema after trivial head trauma associated with the CACNA1A S218L mutation

Anine H Stam (1) , Gert Jan Luijckx (2) , Bwee Tien Poll-The (3) , Ieke Ginjaar (4) , Rune R Frants (5) , Joost Haan (1) , Michel D Ferrari (1) , Gisela M Terwindt (1) , Arn M J M van den Maagdenberg (5)

1 Department of Neurology, Leiden University Medical Centre
2 University of Groningen [Groningen]
3 Department of Pediatric Neurology, Academic Medical Centre Amsterdam
4 Department of Clinical Genetics, Leiden University Medical Centre
5 Department of Human Genetics, Leiden University Medical Centre

To study the clinical spectrum of S218L mutation carriers with special attention for ″early seizures and cerebral edema after trivial head trauma″ (ESCEATHT), a combination of symptoms which resembles ″the juvenile head trauma syndrome″.

Mots clés: COMA; EPILEPSY; GENETICS; MIGRAINE

Anine H Stam, Gert Jan Luijckx, Bwee Tien Poll-The, Ieke Ginjaar, Rune R Frants, et al.. Early seizures and cerebral edema after trivial head trauma associated with the CACNA1A S218L mutation. Journal of Neurology, Neurosurgery and Psychiatry, 2009, 80 (10), pp.1125. ⟨10.1136/jnnp.2009.177279⟩. ⟨hal-00552784⟩