Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Seizures and CDKL5[original query] |
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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Journal of medical genetics 2006 Sep 43 (9): 729-34. Archer H L, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne |
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of medical genetics 2010 Mar 47 (3): 211-6. Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid |
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical genetics 2009 Oct 76 (4): 357-71. Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen M A, Saunier A, Verneau F, Jonveaux P, Philippe |
Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy & behavior : E&B 2010 Nov 19 (3): 296-300. Pintaudi Maria, Calevo Maria Grazia, Vignoli Aglaia, Parodi Elena, Aiello Francesca, Baglietto Maria Giuseppina, Hayek Yussef, Buoni Sabrina, Renieri Alessandra, Russo Silvia, Cogliati Francesca, Giordano Lucio, Canevini Mariapaola, Veneselli Edvi |
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 2012 Oct . Raymond L, Diebold B, Leroux C, Maurey H, Drouin-Garraud V, Delahaye A, Dulac O, Metreau J, Melikishvili G, Toutain A, Rivier F, Bahi-Buisson N, Bienvenu T |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. Epilepsia 2014 Nov 55 (11): 1748-53. Mei Davide, Darra Francesca, Barba Carmen, Marini Carla, Fontana Elena, Chiti Laura, Parrini Elena, Dalla Bernardina Bernardo, Guerrini Ren |
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. Folia biologica 2016 62 (2): 67-74. Záhoráková D, Langová M, Brožová K, Lašt?vková J, Kalina Z, Rennerová L, Martásek |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular syndromology 2016 Sep 7 (4): 210-219. Møller Rikke S, Larsen Line H G, Johannesen Katrine M, Talvik Inga, Talvik Tiina, Vaher Ulvi, Miranda Maria J, Farooq Muhammad, Nielsen Jens E K, Svendsen Lene Lavard, Kjelgaard Ditte B, Linnet Karen M, Hao Qin, Uldall Peter, Frangu Mimoza, Tommerup Niels, Baig Shahid M, Abdullah Uzma, Born Alfred P, Gellert Pia, Nikanorova Marina, Olofsson Kern, Jepsen Birgit, Marjanovic Dragan, Al-Zehhawi Lana I K, Peñalva Sofia J, Krag-Olsen Bente, Brusgaard Klaus, Hjalgrim Helle, Rubboli Guido, Pal Deb K, Dahl Hans |
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. Clinical genetics 2016 Oct . Zhang Qingping, Li Jiarui, Zhao Ying, Bao Xinhua, Wei Liping, Wang Jiapi |
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology 2016 Oct . Fehr Stephanie, Wong Kingsley, Chin Richard, Williams Simon, de Klerk Nick, Forbes David, Krishnaraj Rahul, Christodoulou John, Downs Jenny, Leonard Hel |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Clinical genetics 2020 Oct . MacKay Conor I, Wong Kingsley, Demarest Scott T, Benke Tim A, Downs Jenny, Leonard Hel |
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. American journal of medical genetics. Part A 2022 11 191 (2): 510-517. Mainali Apurba, Athey Taryn, Bahl Shalini, Hung Clara, Caluseriu Oana, Chan Alicia, Eaton Alison, Ghai Shailly Jain, Kannu Peter, MacPherson Melissa, Niederhoffer Karen Y, Siriwardena Komudi, Mercimek-Andrews Saad |
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- Page last updated:Apr 22, 2024
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