Two families with novel missense mutations in COL4A1: When diagnosis can be missed

Journal of the Neurological Sciences

Volumn 352, Issue 1-2, 2015, Pages 99-104

  Giorgio, Elisa ^a   Vaula, Giovanna ^b   Bosco, Giovanni ^c   Giacone, Sara ^b   Mancini, Cecilia ^a   Calcia, Alessandro ^a   Cavalieri, Simona ^b   Di Gregorio, Eleonora ^b   Rigault De Longrais, Roberta ^d   Leombruni, Sabrina ^b   Pinessi, Lorenzo ^b,e   Cerrato, Paolo ^b   Brusco, Alfredo ^a,b   Brussino, Alessandro ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^c Alba Hospital   (Italy)

^d Little House of Diving Providence   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

Author keywords

COL4A1; COL4A2; Fetal porencephaly; Hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome; Porencephaly; Variable expressivity

Indexed keywords

ANTICONVULSIVE AGENT; ARGININE; COLLAGEN TYPE 4; COLLAGEN TYPE 4 A1; GLYCINE; UNCLASSIFIED DRUG; COL4A1 PROTEIN, HUMAN;

ADULT; ANTERIOR COMMUNICATING ARTERY ANEURYSM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BALANCE DISORDER; BIOINFORMATICS; BRAIN ANGIOGRAPHY; BRAIN DISEASE; BRAIN HEMORRHAGE; CASE REPORT; CATARACT; CEREBROVASCULAR ACCIDENT; CHILD; COLLAGEN TYPE 4 RELATED DISORDER; CONGENITAL GLAUCOMA; CONVULSION; DISEASE SEVERITY; DIZYGOTIC TWINS; FEMALE; HEMIPARESIS; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; ITALY; LEFT HEMISPHERE; LEUKOENCEPHALOPATHY; MALE; MIDDLE AGED; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE CRAMP; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA; RETINA HEMORRHAGE; RETINOGRAPHY; SEIZURE; SPONTANEOUS PNEUMOTHORAX; THIRD TRIMESTER PREGNANCY; TWIN PREGNANCY; WHITE MATTER LESION; ADOLESCENT; BRAIN; CONGENITAL MALFORMATION; FAMILY; GENETICS; INFANTILE SPASM; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PREGNANCY; RETINA ARTERY;

ADOLESCENT; ADULT; BRAIN; COLLAGEN TYPE IV; FAMILY; FEMALE; HUMANS; ITALY; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MOTOR DISORDERS; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; RETINAL ARTERY; RETINAL HEMORRHAGE; SPASMS, INFANTILE;

EID: 84928352915     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2015.03.042     Document Type: Article

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