Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations

Neurosurgical Review

Volumn 37, Issue 1, 2014, Pages 161-165

  Schröder, Winnie ^a   Najm, Juliane ^a   Spiegler, Stefanie ^a   Mair, Martina ^b   Viera, Julio ^b   Henn, Wolfram ^b   Felbor, Ute ^a  

^a UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^b SAARLAND UNIVERSITY   (Germany)

Author keywords

Cerebral cavernous malformations; Genetics; Loss of function mutation; Predictive genetic testing; Vascular malformations

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CAVERNOUS HEMANGIOMA; CCM1 GENE; CCM2 GENE; CCM3 GENE; CRANIAL NERVE PARALYSIS; DIZZINESS; FEMALE; GAIT DISORDER; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEADACHE; HUMAN; MENINGIOMA; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; PRIORITY JOURNAL; RECURRENT LARYNGEAL NERVE PALSY; RELATIVE;

APOPTOSIS REGULATORY PROTEINS; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; GENETIC VARIATION; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PREDICTIVE VALUE OF TESTS; PROTO-ONCOGENE PROTEINS; RISK ASSESSMENT;

EID: 84891856126     PISSN: 03445607     EISSN: 14372320     Source Type: Journal    
DOI: 10.1007/s10143-013-0478-6     Document Type: Article

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