Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene

Gene

Volumn 513, Issue 1, 2013, Pages 71-74

  Brownstone, Eva ^a   Voigtländer, Till ^b   Baumhackl, Ulf ^c   Finsterer, Josef ^a  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c Neurology Practice   (Austria)

Author keywords

Female carrier; Genetics; Leucencephalopathy; Leucodystrophy; Seizure; X chromosomal

Indexed keywords

VALPROIC ACID; VERY LONG CHAIN FATTY ACID;

ABCD1 GENE; ADULT; ARTICLE; BRAIN STEM; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DEMYELINATION; DISEASE ASSOCIATION; DISEASE COURSE; DRUG DOSE INCREASE; DYSPHAGIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC DISCHARGE; EXON; GAIT DISORDER; GENE; GENE DELETION; HEAD INJURY; HUMAN; INTELLECTUAL IMPAIRMENT; LEUKOCYTE; LEUKODYSTROPHY; MALE; MUTISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; THALAMUS; TONIC CLONIC SEIZURE; X CHROMOSOME LINKED DISORDER; X LINKED ADRENOLEUCODYSTROPHY;

ADRENOLEUKODYSTROPHY; ANTICONVULSANTS; ATP-BINDING CASSETTE TRANSPORTERS; DISEASE PROGRESSION; EPILEPSY, POST-TRAUMATIC; EXONS; FATTY ACIDS; GAIT DISORDERS, NEUROLOGIC; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SEQUENCE DELETION; VALPROIC ACID;

EID: 84872377604     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.076     Document Type: Article

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