Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation

Journal of Child Neurology

Volumn 31, Issue 2, 2016, Pages 211-214

  Kulkarni, N E I L ^a   Tang, S H A ^b   Bhardwaj, R A T A N ^a   Bernes, Saunder ^a   Grebe, Theresa A ^a  

^a PHOENIX CHILDREN'S HOSPITAL   (United States)

^b AMBRY GENETICS   (United States)

Author keywords

deep brain stimulation; epileptic encephalopathy; GNA01 mutations; movement disorders; whole exome sequencing

Indexed keywords

BINDING PROTEIN; CLONAZEPAM; CLONIDINE; GUANINE; VALPROIC ACID; GNAO1 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADOLESCENT; ARTICLE; BRAIN DEPTH STIMULATION; BRAIN DISEASE; BRAIN FUNCTION; CHILD; CHROMOSOME 16Q; CLINICAL ARTICLE; DISEASE SEVERITY; DRUG WITHDRAWAL; EPILEPSY; EXOME; FEMALE; GENE; GENE MUTATION; GNAO1 GENE; HETEROZYGOTE; HUMAN; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEUROLOGICAL THERAPEUTIC DEVICE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONCOGENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; VIRAL GASTROENTERITIS; CASE REPORT; GENETICS; MOVEMENT DISORDERS; MUTATION; SIBLING;

CHILD, PRESCHOOL; DEEP BRAIN STIMULATION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; MALE; MOVEMENT DISORDERS; MUTATION; SIBLINGS;

EID: 84954142394     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073815587945     Document Type: Article

References (10)

1. Nakamura K, Kodera H, Akita T, et al. De novo mutations in GNAO1, encoding a Go subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet. 2013; 93 (3): 496-505.
2. Murga M, Bunting S, Montaña MF, et al. A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging. Nat Genet. 2009; 41 (8): 891-898.
3. Wang Y, Qin J,. MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. Proc Natl Acad Sci USA. 2003; 100 (26): 15387-15392.
4. Kennerson ML, Nicholson GA, Kaler SG, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010; 86: 343-352.
5. Tümer Z, Møller LB, Horn N,. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol. 1999; 448: 83-95.
6. Huff RM, Axton JM, Neer EJ,. Physical and immunological characterization of a guanine nucleotide-binding protein purified from bovine cerebral cortex. J Biol Chem. 1985; 260: 10864-10871.
7. Valenzuela D, Han K, Mende U, et al. G alpha (o) is necessary for muscarinic regulation of Ca 2+ channels in mouse heart. Proc Natl Acad Sci USA. 1997; 94: 1727-1732.
8. Wettschureck N, Offerman S,. Mammalian G proteins and their cell type specific functions. Physiol Rev. 2005; 85: 1159-1204.
9. Jiang M, Gold MS, Boulay G, et al. Multiple neurological abnormalities in mice deficient in the G protein G o. Proc Natl Acad Sci USA. 1998; 95: 3269-3274.
10. Dulac O,. Epileptic encephalopathy. Epilepsia. 2001; 42 (suppl 3): 23-26.