Research map: Epilepsy‐Dyskinesia Syndromes: The Venn Diagram of Genetic Epilepsy and Movement Disorders

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  1. Glutamate Receptor Ion Channels: Structure, Regulation, and Function · Stephen F. Traynelis · 2010 · 3626 citations · Cited by this paper
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  19. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood · Hirotomo Saitsu · 2013 · 487 citations · Cited by this paper
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  21. Definition and classification of hyperkinetic movements in childhood · Terence D. Sanger · 2010 · 471 citations · Cited by this paper
  22. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort · Joseph D. Symonds · 2019 · 468 citations · Cited by this paper
  23. Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome · Han Zhou · 2020 · 353 citations · Cited by this paper
  24. STXBP1 encephalopathy · Hannah Stamberger · 2016 · 333 citations · Cited by this paper
  25. Mutations in NHLRC1 cause progressive myoclonus epilepsy · Elayne M. Chan · 2003 · 331 citations · Cited by this paper
  26. Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism · Marialuisa Quadri · 2013 · 326 citations · Cited by this paper
  27. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome · Peter Michael Krawitz · 2010 · 303 citations · Cited by this paper
  28. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group · Joerg Klepper · 2020 · 290 citations · Cited by this paper
  29. The evolving spectrum ofPRRT2-associated paroxysmal diseases · Darius Ebrahimi‐Fakhari · 2015 · 272 citations · Cited by this paper
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  32. SCN2A encephalopathy · Katherine B. Howell · 2015 · 254 citations · Cited by this paper
  33. De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy · Kazuyuki Nakamura · 2013 · 243 citations · Cited by this paper
  34. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review · Heather E. Olson · 2019 · 242 citations · Cited by this paper
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  37. A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation · Vera M. Kalscheuer · 2008 · 210 citations · Cited by this paper
  38. D NAJC 6 M utations A ssociated W ith E arly‐ O nset P arkinson's D isease · Simone Olgiati · 2015 · 208 citations · Cited by this paper
  39. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study · Jeffrey Lorenz Neul · 2023 · 200 citations · Cited by this paper

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