The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

Journal of Molecular Medicine

Volumn 91, Issue 12, 2013, Pages 1399-1406

  Martí Massó, Jose Felix ^a,b,c   Bergareche, Alberto ^a,b,c   Makarov, Vladimir ^d   Ruiz Martinez, Javier ^a,b,c   Gorostidi, Ana ^a,b,c   De Munain, Adolfo López ^a,b,c   Poza, Juan Jose ^a,b,c   Striano, Pasquale ^e   Buxbaum, Joseph D ^f   Paisán Ruiz, Coro ^f  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b HOSPITAL DONOSTIA   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^d EHU UPV ^*  (United States)

^e G GASLINI INSTITUTE   (Italy)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

ACMSD; FCMTE; Kynurenine Pathway; Whole exome sequencing

Indexed keywords

CARBIDOPA PLUS LEVODOPA; CLONAZEPAM; ETIRACETAM; KYNURENINE; OXCARBAZEPINE; VALPROIC ACID;

ACMSD GENE; ADULT; AGED; AKINESIA; ALCOHOL CONSUMPTION; AREFLEXIA; ARM DISEASE; ARM RIGIDITY; ARTICLE; ATAXIA; ATTENTION; C WAVE; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CONSCIOUSNESS DISORDER; CONTROLLED STUDY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EPILEPSY; EXECUTIVE FUNCTION; EXOME; FEMALE; GAIT DISORDER; GENE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENOME; HAND TREMOR; HEAD AND NECK DISEASE; HUMAN; HYPOMIMIA; INTELLECTUAL IMPAIRMENT; INVOLUNTARY MOVEMENT; LEG DISEASE; LEG TREMOR; LUNG SQUAMOUS CELL CARCINOMA; MALE; MEMORY; MYOCLONUS; MYOCLONUS SEIZURE; NECK RIGIDITY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; PARKINSONISM; PATHOGENESIS; PERSONALITY DISORDER; PHENOTYPE; PHOTOSENSITIVITY; SEIZURE; SENSORY DYSFUNCTION; SLEEP DEPRIVATION; STANDING; SUNGLASSES; TONIC CLONIC SEIZURE; TRYPTOPHAN METABOLISM;

ADULT; AGED; AMINO ACID SEQUENCE; BRAIN; CARBOXY-LYASES; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; QUINOLINIC ACID; SEQUENCE ALIGNMENT; TRYPTOPHAN; YOUNG ADULT;

EID: 84890314023     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-013-1075-4     Document Type: Article

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