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27 results
  1. KCNQ2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK32534
    ... Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L. A ... I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV. Epilepsy- ...
  2. ALS2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1243
    ... paralysis (IAHSP) is characterized by the following features [ Lesca et al 2003 ]: Onset of spasticity with increased ... pathogenic variants. Genetic heterogeneity has been demonstrated by Lesca et al [2003] by the fact of only ...
  3. KCNB1 encephalopathy: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy
    ... M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar ... G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard ...
  4. GRIN1-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542807
    ... J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire ... P, des Portes V, Lemke JR, Sanlaville D, Lesca G. Novel homozygous missense variant of GRIN1 in ...
  5. SYNGAP1-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK537721
    ... Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke ... J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire ...
  6. ACVRL1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/acvrl1
    ... j.cardiores.2004.10.036. Citation on PubMed Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, ...
  7. GRIN2B-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK501979
    ... PubMed : 23033978 ] Dimassi S, Andrieux J, Labalme A, Lesca G, Cordier MP, Boute O, Neut D, Edery ...
  8. ALS2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/als2
    ... 00138.x. Citation on PubMed Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini ...
  9. DEPDC5-Related Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK385626
    ... Suls A, De Jonghe P, Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, ...
  10. Epilepsy-aphasia spectrum: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum
    ... 2728. Epub 2013 Aug 11. Citation on PubMed Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme ...
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