Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing, Seizure, vol.10, issue.7, pp.532-543, 2001. ,
DOI : 10.1053/seiz.2001.0650
URL : http://doi.org/10.1053/seiz.2001.0650
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations, Brain, vol.129, issue.7, pp.1892-1906, 2006. ,
DOI : 10.1093/brain/awl125
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus, Brain and Development, vol.26, issue.5, pp.326-334, 2004. ,
DOI : 10.1016/j.braindev.2003.09.004
Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia, Neuron, vol.21, issue.6, pp.1315-1325, 1998. ,
DOI : 10.1016/S0896-6273(00)80651-0
Mutations in ARF- GEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex, Nat Genet, vol.1, pp.69-76, 2004. ,
Filamin A: phenotypic diversity, Current Opinion in Genetics & Development, vol.15, issue.3, pp.301-307, 2005. ,
DOI : 10.1016/j.gde.2005.04.001
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females, Human Molecular Genetics, vol.10, issue.17, pp.1775-1783, 2001. ,
DOI : 10.1093/hmg/10.17.1775
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia, Neurology, vol.63, issue.1, pp.51-56, 2004. ,
DOI : 10.1212/01.WNL.0000132818.84827.4D
The brefeldin A-inhibited GDP/GTP exchange factor 2, a protein involved in vesicular trafficking, interacts with the beta subunits of the GABA receptors, J Neurochem, vol.1, pp.173-189, 2004. ,
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia, American Journal of Medical Genetics Part A, vol.102, issue.15, pp.1692-1695, 2006. ,
DOI : 10.1002/ajmg.a.31334
Periventricular nodular heterotopia and Williams syndrome, American Journal of Medical Genetics Part A, vol.74, issue.12, pp.1305-1311, 2006. ,
DOI : 10.1002/ajmg.a.31259
Periventricular heterotopia associated with chromosome 5p anomalies, Neurology, vol.60, issue.6, pp.1033-1036, 2003. ,
DOI : 10.1212/01.WNL.0000052689.03214.61
High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs, The American Journal of Human Genetics, vol.77, issue.5, pp.709-726, 2005. ,
DOI : 10.1086/497343
Chromosome analysis by nonisotopic in situ hybridization Human Cytogenetics: A Practical Approach, pp.157-192, 1992. ,
Global variation in copy number in the human genome, Nature, vol.38, issue.7118, pp.444-454, 2006. ,
DOI : 10.1126/science.1117196
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome, Science, vol.318, issue.5849, pp.420-426, 2007. ,
DOI : 10.1126/science.1149504
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options, Trends in Neurosciences, vol.31, issue.3, pp.154-162, 2008. ,
DOI : 10.1016/j.tins.2007.12.004
Cerebral malformation induced by prenatal X-irradiation: an autoradiographic and Golgi study, J Anat, vol.138, pp.81-93, 1984. ,
Developmental Neuropathology and Impact of Perinatal Brain Damage. I, Journal of Neuropathology and Experimental Neurology, vol.55, issue.7, pp.758-773, 1996. ,
DOI : 10.1097/00005072-199607000-00002
Developmental Neuropathology and Impact of Perinatal Brain Damage. II, Journal of Neuropathology and Experimental Neurology, vol.56, issue.3, pp.219-235, 1997. ,
DOI : 10.1097/00005072-199703000-00001
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation, Journal of Medical Genetics, vol.43, issue.3 ,
DOI : 10.1136/jmg.2004.029173
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome, Journal of Medical Genetics, vol.43, issue.6, pp.541-544, 2006. ,
DOI : 10.1136/jmg.2005.038505
MEKK4 Signaling Regulates Filamin Expression and Neuronal Migration, Neuron, vol.52, issue.5, pp.789-801, 2006. ,
DOI : 10.1016/j.neuron.2006.10.024
URL : http://doi.org/10.1016/j.neuron.2006.10.024
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature, Prenatal Diagnosis, vol.25, issue.3, pp.231-238, 2006. ,
DOI : 10.1002/pd.1386
Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish, Gene, vol.353, issue.2, pp.200-206, 2005. ,
DOI : 10.1016/j.gene.2005.05.015
Very Large G Protein-coupled Receptor-1, the Largest Known Cell Surface Protein, Is Highly Expressed in the Developing Central Nervous System, Journal of Biological Chemistry, vol.277, issue.1, pp.785-792, 2002. ,
DOI : 10.1074/jbc.M108929200
A nonsense mutation of theMASS1 gene in a family with febrile and afebrile seizures, Annals of Neurology, vol.277, issue.5, pp.654-657, 2002. ,
DOI : 10.1002/ana.10347
A Novel Gene Causing a Mendelian Audiogenic Mouse Epilepsy, Neuron, vol.31, issue.4, pp.537-544, 2001. ,
DOI : 10.1016/S0896-6273(01)00397-X
A Role for Centrin 3 in Centrosome Reproduction, The Journal of Cell Biology, vol.122, issue.3, pp.405-416, 2000. ,
DOI : 10.1083/jcb.101.5.1903
Centrin-2 Is Required for Centriole Duplication in Mammalian Cells, Current Biology, vol.12, issue.15, pp.1287-1292, 2002. ,
DOI : 10.1016/S0960-9822(02)01019-9
Centrin1 Is Required for Organelle Segregation and Cytokinesis in Trypanosoma brucei, Molecular Biology of the Cell, vol.18, issue.9, pp.3290-3301, 2007. ,
DOI : 10.1091/mbc.E07-01-0022
Evolutionarily Conserved Multiple C2 Domain Proteins with Two Transmembrane Regions (MCTPs) and Unusual Ca2+ Binding Properties, Journal of Biological Chemistry, vol.280, issue.2, pp.1641-1651, 2005. ,
DOI : 10.1074/jbc.M407305200
Completion of neuronal migration regulated by loss of Ca2+ transients, Proceedings of the National Academy of Sciences, vol.101, issue.22, pp.8479-8484, 2004. ,
DOI : 10.1073/pnas.0401000101
Molecular mechanism of chicken ovalbumin upstream promoter-transcription factor (COUP-TF) actions, The Keio Journal of Medicine, vol.52, issue.3, pp.174-181, 2003. ,
DOI : 10.2302/kjm.52.174
COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth, Development, vol.133, issue.21, pp.4151-4162, 2006. ,
DOI : 10.1242/dev.02600
COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas, Nature Neuroscience, vol.208, issue.10, pp.1277-1286, 2007. ,
DOI : 10.1038/nn1958
The Nuclear Orphan Receptor COUP-TFI Is Required for Differentiation of Subplate Neurons and Guidance of Thalamocortical Axons, Neuron, vol.24, issue.4, pp.847-859, 1999. ,
DOI : 10.1016/S0896-6273(00)81032-6
Periventricular heterotopia in fragile X syndrome, Neurology, vol.67, issue.4, pp.713-715, 2006. ,
DOI : 10.1212/01.wnl.0000230223.51595.99
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes, Nature Genetics, vol.162, issue.8, pp.957-959, 2007. ,
DOI : 10.1038/ng2063
Identification of a Duplication of Xq28 Associated with Bilateral Periventricular Nodular Heterotopia, The American Journal of Human Genetics, vol.61, issue.2, pp.379-387, 1997. ,
DOI : 10.1086/514863
1877-1950) & Otfrid Foerster, pp.1873-1941 ,