Clinical Course of Six Children with GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder

Pediatric Neurology

Volumn 59, Issue , 2016, Pages 81-84

  Ananth, Amitha L ^a   Robichaux Viehoever, Amy ^b,c   Kim, Young Min ^d   Hanson Kahn, Andrea ^a   Cox, Rachel ^a   Enns, Gregory M ^a   Strober, Jonathan ^b,c   Willing, Marcia ^e   Schlaggar, Bradley L ^d,e   Wu, Yvonne W ^b,c   Bernstein, Jonathan A ^a  

^a STANFORD UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e WASHINGTON UNIVERSITY   (United States)

Author keywords

ballismus; chorea; GNAO1; movement disorder; whole exome sequencing

Indexed keywords

BACLOFEN; BETHANECHOL; CLOBAZAM; CLONAZEPAM; CLONIDINE; DEXMEDETOMIDINE; DIAZEPAM; FENTANYL; HALOPERIDOL; LEVETIRACETAM; LORAZEPAM; MIDAZOLAM; OXCARBAZEPINE; PENTOBARBITAL; PROPOFOL; RISPERIDONE; TETRABENAZINE; TOPIRAMATE; TRAZODONE; TRIHEXYPHENIDYL; VALPROIC ACID; VECURONIUM; GNAO1 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADOLESCENT; ARTICLE; CHILD; CHOREA; CLINICAL ARTICLE; DEATH; DEHYDRATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE EXACERBATION; DISEASE SEVERITY; DIZYGOTIC TWINS; DRUG DOSE REDUCTION; DRUG MEGADOSE; DRUG WITHDRAWAL; EPILEPSY; EXOME; FEMALE; GENE; GENE SEQUENCE; GNAO1 GENE; HEMIBALLISM; HOSPITALIZATION; HUMAN; HYPERTELORISM; INFANT; INTENSIVE CARE UNIT; LACTIC ACIDOSIS; LIMITED MOBILITY; MALE; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; ONSET AGE; PARALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; CASE REPORT; FATALITY; GENETICS; PATHOPHYSIOLOGY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FATAL OUTCOME; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; MALE; MOVEMENT DISORDERS;

EID: 84974603043     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2016.02.018     Document Type: Article

References (11)

1. M. Jiang, and N.S. Bajpayee Molecular mechanisms of go signaling Neurosignals 17 2009 23 41
2. K. Nakamura, H. Kodera, T. Akita, and et al. De novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy Am J Hum Genet 93 2013 496 505
3. H. Saitsu, R. Fukai, B. Ben-Zeev, and et al. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay Eur J Hum Genet 24 2016 129 134
4. N. Kulkarni, S. Tang, R. Bhardwaj, S. Bernes, and T.A. Grebe Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation J Child Neurol 31 2016 211 214
5. C.Y. Law, S.T. Chang, S.Y. Cho, and et al. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy Clin Chim Acta 451 2015 292 296
6. P. Pavone, A. Spalice, A. Polizzi, P. Parisi, and M. Ruggieri Ohtahara syndrome with emphasis on recent genetic discovery Brain Dev 34 2012 459 468
7. H. Kaufmann, and I. Biaggioni Autonomic failure in neurodegenerative disorders Semin Neurol 23 2003 351 363
8. D. Lump, and M. Moyer Paroxysmal sympathetic hyperactivity after severe brain injury Curr Neurol Neurosci Rep 14 2014 494
9. A. Chatterjee, and S.J. Frucht Tetrabenazine in the treatment of severe pediatric chorea Mov Disord 18 2003 703 706
10. M. Jiang, M.S. Gold, G. Boulay, and et al. Multiple neurological abnormalities in mice deficient in the G protein go Proc Natl Acad Sci U S A 95 1998 3269 3274
11. M.I. Simon, M.P. Strathmann, and N. Gautam Diversity of G proteins in signal transduction Science 252 1991 802 808