Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient

BMJ Case Rep. 2018 Jul 30:2018:bcr2018226246. doi: 10.1136/bcr-2018-226246.

Authors

Dillon Y Chen¹, John Ross Crawford¹

Affiliation

¹ Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA.

No abstract available

Keywords: neuroimaging; stroke.

Publication types

Case Reports

MeSH terms

Brain / blood supply
Brain / diagnostic imaging*
Child, Preschool
Gait Disorders, Neurologic / diagnosis
Gait Disorders, Neurologic / genetics
Genetic Testing / methods
Headache / diagnosis
Headache / etiology
Hemangioma, Cavernous, Central Nervous System / diagnostic imaging*
Hemangioma, Cavernous, Central Nervous System / genetics
Hemangioma, Cavernous, Central Nervous System / pathology
Hispanic or Latino / genetics
Humans
KRIT1 Protein / genetics*
Magnetic Resonance Angiography / methods
Male
Mutation

Substances

KRIT1 Protein
KRIT1 protein, human