A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

Neurogenetics

Volumn 16, Issue 1, 2015, Pages 65-67

  Keogh, Michael J ^a   Daud, D ^a   Pyle, A ^a   Duff, J ^a   Griffin, H ^a   He, L ^b   Alston, C L ^b   Steele, H ^a   Taggart, S ^c   Basu, A P ^b,d   Taylor, R W ^b   Horvath, R ^a   Ramesh, V ^d   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

Complex I; Mitochondria; Otahara; Parkinsonism; STXBP1

Indexed keywords

MITOCHONDRIAL DNA; PHENOBARBITAL; PROTEIN; PROTEIN STXBP1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG; ELECTRON TRANSPORT COMPLEX I; MUNC18 PROTEINS; STXBP1 PROTEIN, HUMAN;

ARTICLE; ATAXIA; CASE REPORT; CHILD; COGNITIVE DEFECT; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPTIC DISCHARGE; EXOME; EXTRAPYRAMIDAL SYNDROME; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HYPERREFLEXIA; LANGUAGE DISABILITY; MENTAL DEFICIENCY; MITOCHONDRIAL COMPLEX 1 IDEFICIENCY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; STEREOTYPY; TONIC SEIZURE; BRAIN; COMPLICATION; DEFICIENCY; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETICS; HUMANS; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; PARKINSONIAN DISORDERS; PHYSIOPATHOLOGY;

BRAIN; CHILD; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; ELECTRON TRANSPORT COMPLEX I; EPILEPSY; EXOME; FEMALE; HUMANS; MITOCHONDRIAL DISEASES; MUNC18 PROTEINS; MUTATION, MISSENSE; PARKINSONIAN DISORDERS; PHENOTYPE;

EID: 84922102348     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0431-z     Document Type: Article

References (8)

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