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| 1 | STXBPl-related encepha- lopathy presenting as infantile spasms and generalized tremor in three patients 显示文摘 | Mignot C Moutard ML Trouillard O | 2011 | Epilepsia2011，52，10： | 1 |
| 2 | Parental mo-saicism can cause recurrent transmission of SCNIA mutations associated with severe myoclonic epilepsy of infancy 显示文摘 | Depienne C Arzimanoglou A Trouillard O | 2006 | Hum Mutat2006，27，4： | 1 |
| 3 | Mutations and dele- tions in PCDH19 account for various familial or isolated epilepsies in females 显示文摘 | Depienne C Trouillard O Bouteiller D | 2011 | Hum Mutat2011，32，1： | 1 |
| 4 | Use of GIS for optimaliza- tion human activity in a catchment area: A example of the Beauce region (France) 显示文摘 | Hrkal Z Trouillard J M | 1994 | Environmental Geolo- gy1994，24，： | 1 |
| 5 | Spectrum of SCN1A gene mutations associated with Dravet syndrome:analysis of 333 patients显示文摘 | Depienne C Trouillard O Saint-Martin C | | 0，，03： | 1 |
| 6 | STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients显示文摘 | Mignot C Moutard ML Trouillard O | | 0，，10： | 1 |
| 7 | Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients显示文摘 | Depienne C Trouillard O Saint-Martin C | 2009 | J Med Genet2009，46，3： | 1 |
| 8 | Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females显示文摘 | Depienne C Trouillard O Bouteiller D | | 0，，01： | 1 |
| 9 | Spectrum of SCNIA gene mutations associated with Dravet syndrome : Analysis of 333 patients 显示文摘 | Depienne C Trouillard O Saint - Martin C | 2009 | J Med Genet2009，46，3： | 1 |
| 10 | Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients显示文摘 | Depienne C Trouillard O Saint-Martin C | 2009 | Med Genet2009，46，3： | 1 |
| 11 | STXBPl-related encephalopathy presenting as infantile spasms and generalized tremor in three patients显示文摘 | Mignot C Moutard ML Trouillard O | 2011 | Epilepsia2011，52，10： | 1 |
| 12 | Mutations and De-letions in PCDH19 Account forVarious Familial or Isolated Epilep-sies in Females显示文摘 | Depienne C Trouillard 0 Bouteiller D | 2011 | Hum Mutat2011，32，1： | 1 |
| 13 | Mutations and de-letions in PCDH19 account for various familiar or isolated epi-lepsies in females显示文摘 | Depienne C Trouillard 0 Bouteiller D | 2011 | Hum Mutat2011，32，1： | 1 |
| 14 | Mutations and deletions in PCDH19 account for various familiar or isolated epilepsies in females显示文摘 | Depienne C Trouillard O Bouteiller D | | 0，，： | 1 |
| 15 | Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism显示文摘Lafora disease is a fatal autosomal recessive formof progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in adolescence.The two genes known to be involved in Lafora disease are EPM2 A and NHLRC1(EPM2B). The EPM2 A gene encodes laforin,a dual-specificity protein phosphatase, and the NHLRC1 gene encodes malin, an E3-ubiquitin ligase. The two proteins interact with each other and, as a complex, are thought to regulate glycogen synthesis. Here, we report three Lafora families with two novel pathogenic mutations(C46Y and L261P) and two recurrent mutations(P69A and D146N) in NHLRC1. Investigation of their functional consequences in cultured mammalian cells revealed that malin C46 Y, malin P69 A, malin D146 N, and malin L261 P mutants failed to downregulate the level of R5/PTG, a regulatory subunit of protein phosphatase 1 involved in glycogen synthesis. Abnormal accumulation of intracellular glycogen was observed with all malin mutants, reminiscent of the polyglucosan inclusions(Lafora bodies) present in patients with Lafora disease. | Philippe Couarch Santiago Vernia Isabelle Gourfinkel-An Ga tan Lesca Svetlana Gataullina Estelle Fedirko Oriane Trouillard Christel Depienne Olivier Dulac Dominique Steschenko Eric Leguern Pascual Sanz Stéphanie Baulac | 2015 | 世界最新医学信息文摘2015，15，5： | 0 |
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