COL4A1 gene mutation - Beyond a vascular syndrome

Seizure

Volumn 31, Issue , 2015, Pages 19-21

  John, Seby ^a   Jehi, Lara ^a   Manno, Edward M ^a   Conway, Devon S ^a   Uchino, Ken ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN 4 A1; ETIRACETAM; FOSPHENYTOIN SODIUM; HARKOSERIDE; LORAZEPAM; MIDAZOLAM; PHENOBARBITAL; UNCLASSIFIED DRUG; COL4A1 PROTEIN, HUMAN; COLLAGEN TYPE 4;

ADULT; BILATERAL PERIODIC LATERALIZED EPILEPTIFORM DISCHARGE; BRAIN HEMORRHAGE; BRAIN ISCHEMIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CEREBROVASCULAR DISEASE; CLINICAL EVALUATION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEMATURIA; HISTOPATHOLOGY; HOSPITALIZATION; HUMAN; LACUNAR STROKE; LETTER; LEUKOENCEPHALOPATHY; LUMBAR PUNCTURE; MEDICAL HISTORY; MIDDLE AGED; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE; SUSCEPTIBILITY WEIGHTED IMAGING; TONIC CLONIC SEIZURE; TRANSIENT ISCHEMIC ATTACK; URINALYSIS; WHITE MATTER LESION; BRAIN; CEREBROVASCULAR DISORDERS; GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; SEIZURES; STATUS EPILEPTICUS;

BRAIN; CEREBROVASCULAR DISORDERS; COLLAGEN TYPE IV; FEMALE; HUMANS; MIDDLE AGED; MUTATION; SEIZURES; STATUS EPILEPTICUS;

EID: 84941117878     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2015.06.014     Document Type: Article

References (4)

1. K. Vahedi, and S. Alamowitch Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease Curr Opin Neuro. 24.1 2011 63 68
2. H. Chabriat, and et al. Cadasil Lancet Neurol 8.7 2009 643 653
3. E.-H. Katharina, and et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression Ann Neurol 69.2 2011 413 418
4. M. Leung, and et al. COL4A1 mutation in a pediatric patient presenting with post-ictal hemiparesis Can J Neurol Sci 39.5 2012 654 657