Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Neurology

Volumn 82, Issue 12, 2014, Pages 1068-1075

  Baulac, Stéphanie ^a,b,c,d   Lenk, Guy M ^e   Dufresnois, Béatrice ^a,b,c,d   Bencheikh, Bouchra Ouled Amar ^a,b,c,d,f   Couarch, Philippe ^a,b,c,d   Renard, Julie ^a,b,c,d   Larson, Peter A ^e   Ferguson, Cole J ^e   Noé, Eric ^a,b,c,d   Poirier, Karine ^g   Hubans, Christine ^h   Ferreira, Stéphanie ^h   Guerrini, Renzo ⁱ   Ouazzani, Reda ^l   El Hachimi, Khalid Hamid ^a,b,c,d,j   Meisler, Miriam H ^e   Leguern, Eric ^a,b,c,d,k  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d ICM   (France)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^f IBN SINA HOSPITAL   (Morocco)

^g INSTITUT COCHIN   (France)

^h Genoscreen   (France)

ⁱ DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^j PSL RESEARCH UNIVERSITY   (France)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL VACUOLE; CEREBELLUM; CHROMOSOME 6Q; CONTROLLED STUDY; EPILEPSY; EXOME; FAMILIAL DISEASE; FIBROBLAST; FIG4 GENE; GENE; HIPPOCAMPUS; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; MICROGYRIA; MISSENSE MUTATION; MOROCCO; MOUSE; NONHUMAN; PATHOGENICITY; PRIORITY JOURNAL;

ADULT; ANIMALS; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 6; CONSANGUINITY; EPILEPSY; EXOME; FEMALE; FIBROBLASTS; FLAVOPROTEINS; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICE; MICE, KNOCKOUT; MOROCCO; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 84898722702     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000241     Document Type: Article

References (26)

1. Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135:1348-1369.
2. Piao X, Hill RS, Bodell A, et al. G protein-coupled receptordependent development of human frontal cortex. Science 2004;303:2033-2036.
3. Valence S, Poirier K, Lebrun N, et al. Homozygous truncating mutation of the KBP gene, encoding a KIF1Bbinding protein, in a familial case of fetal polymicrogyria. Neurogenetics 2013;14:215-224.
4. Morris-Rosendahl DJ, Segel R, Born AP, et al. New RAB3- GAP1 mutations in patients with Warburg Micro syndrome from different ethnic backgrounds and a possible founder effect in the Danish. Eur J Hum Genet 2010;18:1100-1106.
5. Borck G, Wunram H, Steiert A, et al. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet 2011;129:45-50.
6. Bem D, Yoshimura S, Nunes-Bastos R, et al. Loss-of-function mutations in RAB18 cause Warburg Micro syndrome. Am J Hum Genet 2011;88:499-507.
7. Poirier K, Keays DA, Francis F, et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 2007;28:1055-1064.
8. Jaglin XH, Poirier K, Saillour Y, et al. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009;41:746-752.
9. Poirier K, Saillour Y, Bahi-Buisson N, et al. Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010;19:4462-4473.
10. Abdollahi MR, Morrison E, Sirey T, et al. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet 2009;85:737-744.
11. Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos- Bueno MR. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet 2000;9:2051-2058.
12. Roll P, Rudolf G, Pereira S, et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006;15:1195-1207.
13. Ben Cheikh BO, Baulac S, Lahjouji F, et al. A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. Neurogenetics 2009;10:35-42.
14. Chow CY, Zhang Y, Dowling JJ, et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007;448:68-72.
15. Campeau PM, Lenk GM, Lu JT, et al. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet 2013;92:781-791.
16. Lenk GM, Ferguson CJ, Chow CY, et al. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS Genet 2011;7:e1002104.
17. Wahlsten D, Andison M. Patterns of cerebellar foliation in recombinant inbred mice. Brain Res 1991;557:184-189.
18. Ferguson CJ, Lenk GM, Jones JM, et al. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Hum Mol Genet 2012;21: 3525-3534.
19. Abraham H, Orsi G, Seress L. Ontogeny of cocaine- and amphetamine-regulated transcript (CART) peptide and calbindin immunoreactivity in granule cells of the dentate gyrus in the rat. Int J Dev Neurosci 2007;25:265-274.
20. Rami A, Brehier A, Thomasset M, Rabie A. Cholecalcin (28-kDa calcium-binding protein) in the rat hippocampus: development in normal animals and in altered thyroid states - an immunocytochemical study. Dev Biol 1987;124:228-238.
21. Nicholson G, Lenk GM, Reddel SW, et al. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4. Brain 2011;134:1959-1971.
22. Walch E, Schmidt M, Brenner RE, et al. Yunis-Varon syndrome: evidence for a lysosomal storage disease. Am J Med Genet 2000;95:157-160.
23. Kulkarni ML, Vani HN, Nagendra K, et al. Yunis Varon syndrome. Indian J Pediatr 2006;73:353-355.
24. Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 2008; 31:154-162.
25. Cantagrel V, Lossi AM, Lisgo S, et al. Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat 2007;28: 356-364.
26. Jean S, Kiger AA. Coordination between RAB GTPase and phosphoinositide regulation and functions. Nat Rev Mol Cell Biol 2012;13:463-470.