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Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Cameron, Jillian M; Maljevic, Snezana; Nair, Umesh; Aung, Ye Htet; Cogné, Benjamin; Bézieau, Stéphane; Blair, Edward; Isidor, Bertrand; Zweier, Christiane; Reis, André; Koenig, Mary Kay; Maarup, Timothy; Sarco, Dean; Afenjar, Alexandra; Huq, A H M Mahbubul; Kukolich, Mary; Billette de Villemeur, Thierry; Nava, Caroline; Héron, Bénédicte; Petrou, Steven; Berkovic, Samuel F.
Affiliation
  • Cameron JM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Melbourne, Australia.
  • Maljevic S; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Australia.
  • Nair U; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Australia.
  • Aung YH; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Australia.
  • Cogné B; L'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Bézieau S; Service de génétique medicale, Centre Hospitalier, Université de Nantes, Nantes, France.
  • Blair E; L'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Isidor B; Service de génétique medicale, Centre Hospitalier, Université de Nantes, Nantes, France.
  • Zweier C; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic Centre, Windmill Road, Oxford, United Kingdom.
  • Reis A; L'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Koenig MK; Service de génétique medicale, Centre Hospitalier, Université de Nantes, Nantes, France.
  • Maarup T; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Sarco D; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Afenjar A; Department of Paediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, Texas.
  • Huq AHMM; Southern California Permanente Medical Group, Pasadena, California.
  • Kukolich M; Southern California Permanente Medical Group, Pasadena, California.
  • Billette de Villemeur T; Centre de référence des malformations et maladies congénitales du cervelet, Département de génétique médicale, Sorbonne Université, GRC ConCer-LD, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.
  • Nava C; Wayne State University, Detroit, Michigan.
  • Héron B; Genetics Department, Cook Children's Health Care System, Fort Worth, Texas.
  • Petrou S; Sorbonne Universite, GRC ConCer-LD, Neuropédiatrie, Trousseau Hospital, AP-HP, Inserm U1141, Paris, France.
  • Berkovic SF; Département de Génétique, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, AP-HP, Hôpital de la Pitié Salpêtrière, F-75013, Paris, France.
Ann Clin Transl Neurol ; 6(7): 1263-1272, 2019 07.
Article in En | MEDLINE | ID: mdl-31353855
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Myoclonic Epilepsies, Progressive / Shaw Potassium Channels / Genetic Association Studies Limits: Animals / Female / Humans / Infant / Male / Newborn Language: En Journal: Ann Clin Transl Neurol Year: 2019 Document type: Article Affiliation country: Australia Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Myoclonic Epilepsies, Progressive / Shaw Potassium Channels / Genetic Association Studies Limits: Animals / Female / Humans / Infant / Male / Newborn Language: En Journal: Ann Clin Transl Neurol Year: 2019 Document type: Article Affiliation country: Australia Country of publication: Estados Unidos