Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00000041.xml
Neuropediatrics 2015; 46(02): 134-138
DOI: 10.1055/s-0034-1399754
DOI: 10.1055/s-0034-1399754
Short Communications
Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype
Further Information
Publication History
09 July 2014
25 November 2014
Publication Date:
02 February 2015 (online)
![](https://www.thieme-connect.de/media/neuropediatrics/201502/lookinside/thumbnails/10.1055-s-0034-1399754-1.jpg)
Abstract
Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP), which has typical clinical and neuroradiological findings. So far, 35 families and 26 independent mutations have been described.
We present a Portuguese 5-year-old boy, born from nonconsanguineous parents, with BFPP. This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.
To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.
-
References
- 1 Jansen A, Andermann E. Genetics of the polymicrogyria syndromes. J Med Genet 2005; 42 (5) 369-378
- 2 Piao X, Hill RS, Bodell A , et al. G protein-coupled receptor-dependent development of human frontal cortex. Science 2004; 303 (5666) 2033-2036
- 3 Harbord MG, Boyd S, Hall-Craggs MA, Kendall B, McShane MA, Baraitser M. Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings. Neuropediatrics 1990; 21 (4) 218-221
- 4 Piao X, Chang BS, Bodell A , et al. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol 2005; 58 (5) 680-687
- 5 Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia 2009; 50 (6) 1344-1353
- 6 Bahi-Buisson N, Poirier K, Boddaert N , et al. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010; 133 (11) 3194-3209
- 7 Luo R, Yang HM, Jin Z , et al. A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. Pediatr Neurol 2011; 45 (1) 49-53
- 8 Quattrocchi CC, Zanni G, Napolitano A , 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 (1) 77-83
- 9 Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M. Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. Brain Dev 2014; 36 (6) 528-531
- 10 Chang BS, Piao X, Bodell A , et al. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 2003; 53 (5) 596-606
- 11 Satishchandra P. Geographically Specific Epilepsy Syndromes in India Hot-Water Epilepsy. Epilepsia 2003; 44 (Suppl. 01) 29-32
- 12 Ratnapriya R, Satishchandra P, Kumar SD, Gadre G, Reddy R, Anand A. A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3. Hum Genet 2009; 125 (5–6) 541-549
- 13 Ratnapriya R, Satishchandra P, Dilip S, Gadre G, Anand A. Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28. Hum Genet 2009; 126 (5) 677-683
- 14 Hizem Y, Gargouri A, Ben Djebara M , et al. Hot water epilepsy with pachygyria. Neurol Sci 2012; 33 (3) 631-633
- 15 Grosso S, Farnetani MA, Francione S , et al. Hot water epilepsy and focal malformation of the parietal cortex development. Brain Dev 2004; 26 (7) 490-493
- 16 Satishchandra P, Dilipkumar S, Subbakrishna DK, Sinha S. Intermittent clobazam prophylaxis in hot water epilepsy is safe and effective: a prospective study. Epilepsy Res 2014; 108 (7) 1238-1242