Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

Molecular Genetics and Metabolism

Volumn 104, Issue 3, 2011, Pages 362-368

  Dill, Patricia ^a   Schneider, Jacques ^a   Weber, Peter ^a   Trachsel, Daniel ^a   Tekin, Mustafa ^b   Jakobs, Cornelis ^c   Thöny, Beat ^d,e,f   Blau, Nenad ^d,e,f  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e UNIVERSITY OF ZURICH   (Switzerland)

^f Research Center for Children RCC   (Switzerland)

Author keywords

Cerebral folate deficiency; Epilepsy; FGF3 gene; FOLR1 gene; Labyrinthine aplasia; Leucodystrophy

Indexed keywords

CARBAMAZEPINE; ETIRACETAM; FOLINIC ACID; LEVODOPA; PHENOBARBITAL; PYRIDOXAL 5 PHOSPHATE; SULTIAME; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

APLASIA; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBROSPINAL FLUID; CHILD; COGNITION; CONGENITAL DEAFNESS; CONSCIOUSNESS; DYSPHAGIA; FOLIC ACID DEFICIENCY; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERCAPNIA; INTRACTABLE EPILEPSY; LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA SYNDROME; MALE; MICROTIA; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; PRIORITY JOURNAL; RESPIRATORY ARREST; SCHOOL CHILD; SEIZURE;

BASE SEQUENCE; CHILD; CODON, NONSENSE; CONGENITAL ABNORMALITIES; DIHYDROXYPHENYLALANINE; DNA PRIMERS; EAR; EAR, INNER; ELECTROENCEPHALOGRAPHY; EPILEPSY; FIBROBLAST GROWTH FACTOR 3; FOLATE RECEPTOR 1; FOLIC ACID DEFICIENCY; HUMANS; LEVODOPA; MALE; MOLECULAR SEQUENCE DATA; PYRIDOXAL PHOSPHATE; SEQUENCE ANALYSIS, DNA; SKULL; SYNDROME; TOOTH ABNORMALITIES;

EID: 82455171659     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.05.019     Document Type: Article

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