Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria

Brain and Development

Volumn 36, Issue 6, 2014, Pages 528-531

  Fujii, Yuji ^a   Ishikawa, Nobutsune ^a   Kobayashi, Yoshiyuki ^a   Kobayashi, Masao ^a   Kato, Mitsuhiro ^b  

^a HIROSHIMA UNIVERSITY HOSPITAL   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

Author keywords

GPR56; Heterozygous mutation; Lennox Gastaut; Polymicrogyria

Indexed keywords

CARBAMAZEPINE; G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 56; UNCLASSIFIED DRUG; GPR56 PROTEIN, HUMAN;

ABSENCE; ARTICLE; BILATERAL FRONTOPARIETAL POLYMICROGYRIA; CASE REPORT; COMPLEX PARTIAL SEIZURE; DIVERGENT STRABISMUS; DROP ATTACK; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; JAPANESE (PEOPLE); LENNOX GASTAUT SYNDROME; MENTAL DEFICIENCY; MICROGYRIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; SPIKE WAVE; TENDON REFLEX; TONIC SEIZURE; WHITE MATTER; BRAIN; CHILD; CORTICAL DYSPLASIA; ELECTROENCEPHALOGRAPHY; GENETICS; HETEROZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY;

BRAIN; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; RECEPTORS, G-PROTEIN-COUPLED;

EID: 84901643143     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.07.015     Document Type: Article

References (11)

1. Piao X., Chang B.S., Bodell A., Woods K., Benzeev B., Topcu M., et al. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol 2005, 58:680-687.
2. Piao X., Hill R.S., Bodell A., Chang B.S., Basel-Vanagaite L., Straussberg R., et al. G protein-coupled receptor-dependent development of human frontal cortex. Science 2004, 303:2033-2036.
3. Stacey M., Lin H.H., Gordon S., McKnight A.J. LNB-TM7, a group of seven-transmembrane proteins related to family-B G-protein-coupled receptors. Trends Biochem Sci 2000, 25:284-289.
4. Bjarnadóttir T.K., Fredriksson R., Höglund P.J., Gloriam D.E., Lagerström M.C., Schiöth H.B. The human and mouse repertoire of the adhesion family of G-protein-coupled receptors. Genomics 2004, 84(1):23-33.
5. Bahi-Buisson N., Poirier K., Boddaert N., Fallet-Bianco C., Specchio N., Bertini E., et al. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010, 133:3194-3209.
6. Parrini E., Ferrari A.R., Dorn T., Walsh C.A., Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia 2009, 50:1344-1353.
7. Luo R., Yang H.M., Jin Z., Halley D.J., Chang B.S., MacPherson L., et al. A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. Pediatr Neurol 2011, 45:49-53.
8. Quattrocchi C.C., Zanni G., Napolitano A., Longo D., Cordelli D.M., et al. Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics 2013, 14:77-83.
9. Leventer R.J., Jansen A., Pilz D.T., Stoodley N., Marini C., Dubeau F., et al. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 2010, 133:1415-1427.
10. Chang B.S., Piao X., Bodell A., Basel-Vanagaite L., Straussberg R., Dobyns W.B., et al. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 2003, 53:596-606.
11. Jin Z., Tietjen I., Bu L., Liu-Yesucevitz L., Gaur S.K., Walsh C.A., et al. Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet 2007, 16:1972-1985.