Article
Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2013
Balasubramanian Meena, Jain Vani, Glover Rhona C, Robertson Lisa K, Mordekar Santosh R
Abstract excerpt
We report two families with a variable presentation in association with a KRIT1 mutation. The index patient in Family 1 was a 9-year old girl who presented with left hemi-dystonia and a cerebral cavernous malformation was identified in the right lentiform nucleus. The maternal grandmother presented with a spinal cavernoma, which was operated at 35-years of age. The mother presented with intractable temporal lobe...
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