Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: A retrospective cohort study

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Mercimek Mahmutoglu, Saadet ^a,b   Sidky, Sarah ^a   Hyland, Keith ^c   Patel, Jaina ^a   Donner, Elizabeth J ^d   Logan, William ^d   Mendoza Londono, Roberto ^a   Moharir, Mahendranath ^d   Raiman, Julian ^a   Schulze, Andreas ^a,b   Siriwardena, Komudi ^a   Yoon, Grace ^a,d   Kyriakopoulou, Lianna ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c Medical Neurogenetics LLC   (United States)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Epilepsy; Genetics; Inherited neurotransmitter disorders; Monoamine metabolism; Movement disorders; Pyridoxine metabolism

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; ALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE 7A1; DIHYDROPTERIDINE REDUCTASE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; NEUROTRANSMITTER; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; TYROSINE 3 MONOOXYGENASE; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBROSPINAL FLUID ANALYSIS; CHILD; CHOREOATHETOSIS; CLINICAL FEATURE; COHORT ANALYSIS; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; DYSTONIA; EARLY DIAGNOSIS; EPILEPSY; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOME; GLOBAL DEVELOPMENTAL DELAY; HUMAN; INFANT; INHERITED NEUROTRANSMITTER DISORDER; LUMBAR PUNCTURE; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MOTOR DYSFUNCTION; NERVE CELL DIFFERENTIATION; NEWBORN PERIOD; NEWBORN SCREENING; PRESCHOOL CHILD; PREVALENCE; PYRIDOXINE DEPENDENT EPILEPSY; RETROSPECTIVE STUDY; SCHOOL CHILD; TREMOR; ADOLESCENT; DYSTONIC DISORDERS; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; METABOLISM, INBORN ERRORS; NEWBORN; PHYSIOLOGY; YOUNG ADULT;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DYSTONIC DISORDERS; EPILEPSY; GENE EXPRESSION REGULATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MOVEMENT DISORDERS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84924175868     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0234-9     Document Type: Article

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