Search the collection

2,557 results for Epileptic+encephalopathy

Sort by:

Sort by

Limit results to:

20 per page

2,557 results for Epileptic+encephalopathy

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY ASSOCIATED WITH A KCNA2 GENE VARIANT: A CASE REPORT/ENCEFALOPATIA EPILEPTICA E DO DESENVOLVIMENTO ASSOCIADA A VARIANTE NO GENE KCNA2: UM RELATO DE CASO/ ENCE...
Author / Creator:Kersting, Veronica Rachel Cunha ; Fragomeni, Manuela de Oliveira
Publisher:Faculdade Novo Milenio
Journal title:Revista Foco, 2024-11, Vol.17 (11)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Author / Creator:Syrbe, Steffen ; Hedrich, Ulrike B S ; Riesch, Erik ; Djémié, Tania ; Müller, Stephan ; Møller, Rikke S ; Maher, Bridget ; Hernandez-Hernandez, Laura ; Synofzik, Matthis ; Caglayan, Hande S ; Arslan, Mutluay ; Serratosa, José M ; Nothnagel, Michael ; May, Patrick ; Krause, Roland ; Löffler, Heidrun ; Detert, Katja ; Dorn, Thomas ; Vogt, Heinrich ; Krämer, Günter ; Schöls, Ludger ; Mullis, Primus E ; Linnankivi, Tarja ; Lehesjoki, Anna-Elina ; Sterbova, Katalin ; Craiu, Dana C ; Hoffman-Zacharska, Dorota ; Korff, Christian M ; Weber, Yvonne G ; Steinlin, Maja ; Gallati, Sabina ; Bertsche, Astrid ; Bernhard, Matthias K ; Merkenschlager, Andreas ; Kiess, Wieland ; Gonzalez, Michael ; Züchner, Stephan ; Palotie, Aarno ; Suls, Arvid ; De Jonghe, Peter ; Helbig, Ingo ; Biskup, Saskia ; Wolff, Markus ; Maljevic, Snezana ; Schüle, Rebecca ; Sisodiya, Sanjay M ; Weckhuysen, Sarah ; Lerche, Holger ; Lemke, Johannes R
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-04, Vol.47 (4), p.393-399
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Plasma Membrane Na+-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy
Author / Creator:Bhutia, Yangzom ; Kopel, Jonathan ; Lawrence, John ; Neugebauer, Volker ; Ganapathy, Vadivel
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2017-02, Vol.22 (3), p.378
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Author / Creator:Nava, Caroline ; Dalle, Carine ; Rastetter, Agnès ; Striano, Pasquale ; de Kovel, Carolien G F ; Nabbout, Rima ; Cancès, Claude ; Ville, Dorothée ; Brilstra, Eva H ; Gobbi, Giuseppe ; Raffo, Emmanuel ; Bouteiller, Delphine ; Marie, Yannick ; Trouillard, Oriane ; Robbiano, Angela ; Keren, Boris ; Agher, Dahbia ; Roze, Emmanuel ; Lesage, Suzanne ; Nicolas, Aude ; Brice, Alexis ; Baulac, Michel ; Vogt, Cornelia ; El Hajj, Nady ; Schneider, Eberhard ; Suls, Arvid ; Weckhuysen, Sarah ; Gormley, Padhraig ; Lehesjoki, Anna-Elina ; De Jonghe, Peter ; Helbig, Ingo ; Baulac, Stéphanie ; Zara, Federico ; Koeleman, Bobby P C ; Haaf, Thomas ; LeGuern, Eric ; Depienne, Christel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-06, Vol.46 (6), p.640-645
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Author / Creator:Saitsu, Hirotomo ; Kato, Mitsuhiro ; Mizuguchi, Takeshi ; Hamada, Keisuke ; Osaka, Hitoshi ; Tohyama, Jun ; Uruno, Katsuhisa ; Kumada, Satoko ; Nishiyama, Kiyomi ; Nishimura, Akira ; Okada, Ippei ; Yoshimura, Yukiko ; Hirai, Syu-ichi ; Kumada, Tatsuro ; Hayasaka, Kiyoshi ; Fukuda, Atsuo ; Ogata, Kazuhiro ; Matsumoto, Naomichi
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-06, Vol.40 (6), p.782-788
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Critical roles of αII spectrin in brain development and epileptic encephalopathy
Author / Creator:Wang, Yu ; Ji, Tuo ; Nelson, Andrew D. ; Glanowska, Katarzyna ; Murphy, Geoffrey G. ; Jenkins, Paul M. ; Parent, Jack M.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2018-02, Vol.128 (2), p.760-773
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy
Author / Creator:Jakimiec, Martyna ; Paprocka, Justyna ; Śmigiel, Robert
Publisher:Switzerland: MDPI
Journal title:Brain sciences, 2020-02, Vol.10 (2), p.107
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy
Author / Creator:Lopez-Santiago, Luis F. ; Yuan, Yukun ; Wagnon, Jacy L. ; Hull, Jacob M. ; Frasier, Chad R. ; O’Malley, Heather A. ; Meisler, Miriam H. ; Isom, Lori L.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-02, Vol.114 (9), p.2383-2388
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
KCNQ2‐DEE: developmental or epileptic encephalopathy?
Author / Creator:Berg, Anne T. ; Mahida, Sonal ; Poduri, Annapurna
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2021-03, Vol.8 (3), p.666-676
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
Author / Creator:Sahly, Ahmed N. ; Sierra-Marquez, Juan ; Bungert-Plümke, Stefanie ; Franzen, Arne ; Mougharbel, Lina ; Berrahmoune, Saoussen ; Dassi, Christelle ; Poulin, Chantal ; Srour, Myriam ; Guzman, Raul E. ; Myers, Kenneth A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2024-05, Vol.143 (5), p.667-681
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Infantile-Onset Epileptic Encephalopathy - A Treatable Cause
Author / Creator:Jinka, Dasaratha R ; Lingappa, Lokesh ; Konanki, Ramesh
Publisher:India: Wolters Kluwer - Medknow
Journal title:Annals of the Indian Academy of Neurology, 2024-09, Vol.27 (5), p.593-595
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
RARS1‐related developmental and epileptic encephalopathy
Author / Creator:Wan, Lin ; Yu, Dan ; Li, Zhichao ; Liu, Xinting ; Liang, Yan ; Yan, Huimin ; Zhu, Gang ; Zhang, Bo ; Yang, Guang
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2023-09, Vol.8 (3), p.867-876
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
SCN1B‐linked early infantile developmental and epileptic encephalopathy
Author / Creator:Aeby, Alec ; Sculier, Claudine ; Bouza, Alexandra A. ; Askar, Brandon ; Lederer, Damien ; Schoonjans, Anne‐Sofie ; Vander Ghinst, Marc ; Ceulemans, Berten ; Offord, James ; Lopez‐Santiago, Luis F. ; Isom, Lori L.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-12, Vol.6 (12), p.2354-2367
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
Author / Creator:Al-Maawali, Almundher ; Al-Murshedi, Fathiya ; Al-Futaisi, Amna ; Mansy, Ahmed ; Al-Habsi, Asila ; Girisha, Katta M.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.243-246
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
Author / Creator:Damaj, Lena ; Lupien-Meilleur, Alexis ; Lortie, Anne ; Riou, Émilie ; Ospina, Luis H ; Gagnon, Louise ; Vanasse, Catherine ; Rossignol, Elsa
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1505-1512
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy
Author / Creator:Hoffmann, G. F. ; Schmitt, B. ; Windfuhr, M. ; Wagner, N. ; Strehl, H. ; Bagci, S. ; Franz, A. R. ; Mills, P. B. ; Clayton, P. T. ; Baumgartner, M. R. ; Steinmann, B. ; Bast, T. ; Wolf, N. I. ; Zschocke, J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.96-99
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Author / Creator:Maroofian, Reza ; Sedmík, Jiří ; Mazaheri, Neda ; Scala, Marcello ; Zaki, Maha S ; Keegan, Liam P ; Azizimalamiri, Reza ; Issa, Mahmoud ; Shariati, Gholamreza ; Sedaghat, Alireza ; Beetz, Christian ; Bauer, Peter ; Galehdari, Hamid ; O’Connell, Mary A ; Houlden, Henry
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2021-07, Vol.58 (7), p.495-504
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification
Author / Creator:Lentini, Jenna M. ; Alsaif, Hessa S. ; Faqeih, Eissa ; Alkuraya, Fowzan S. ; Fu, Dragony
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-05, Vol.11 (1), p.2510-14, Article 2510
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype
Author / Creator:Ferrara, Giusi ; Cutillo, Gianni ; Peterlongo, Irene ; Minacapilli, Eleonora ; Iascone, Maria ; Veggiotti, Pierangelo ; Fiocchi, Isabella
Publisher:Oxford: John Wiley & Sons, Inc
Journal title:Annals of the Child Neurology Society, 2024-03, Vol.2 (1), p.73-78
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
Author / Creator:Takata, Atsushi ; Nakashima, Mitsuko ; Saitsu, Hirotomo ; Mizuguchi, Takeshi ; Mitsuhashi, Satomi ; Takahashi, Yukitoshi ; Okamoto, Nobuhiko ; Osaka, Hitoshi ; Nakamura, Kazuyuki ; Tohyama, Jun ; Haginoya, Kazuhiro ; Takeshita, Saoko ; Kuki, Ichiro ; Okanishi, Tohru ; Goto, Tomohide ; Sasaki, Masayuki ; Sakai, Yasunari ; Miyake, Noriko ; Miyatake, Satoko ; Tsuchida, Naomi ; Iwama, Kazuhiro ; Minase, Gaku ; Sekiguchi, Futoshi ; Fujita, Atsushi ; Imagawa, Eri ; Koshimizu, Eriko ; Uchiyama, Yuri ; Hamanaka, Kohei ; Ohba, Chihiro ; Itai, Toshiyuki ; Aoi, Hiromi ; Saida, Ken ; Sakaguchi, Tomohiro ; Den, Kouhei ; Takahashi, Rina ; Ikeda, Hiroko ; Yamaguchi, Tokito ; Tsukamoto, Kazuki ; Yoshitomi, Shinsaku ; Oboshi, Taikan ; Imai, Katsumi ; Kimizu, Tomokazu ; Kobayashi, Yu ; Kubota, Masaya ; Kashii, Hirofumi ; Baba, Shimpei ; Iai, Mizue ; Kira, Ryutaro ; Hara, Munetsugu ; Ohta, Masayasu ; Miyata, Yohane ; Miyata, Rie ; Takanashi, Jun-ichi ; Matsui, Jun ; Yokochi, Kenji ; Shimono, Masayuki ; Amamoto, Masano ; Takayama, Rumiko ; Hirabayashi, Shinichi ; Aiba, Kaori ; Matsumoto, Hiroshi ; Nabatame, Shin ; Shiihara, Takashi ; Kato, Mitsuhiro ; Matsumoto, Naomichi
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-06, Vol.10 (1), p.2506-14, Article 2506
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 2,557 results

Export record to excel

Export this record

Export record to excel

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY ASSOCIATED WITH A KCNA2 GENE VARIANT: A CASE REPORT/ENCEFALOPATIA EPILEPTICA E DO DESENVOLVIMENTO ASSOCIADA A VARIANTE NO GENE KCNA2: UM RELATO DE CASO/ ENCE...

Export this record

Export record to excel

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Export this record

Export record to excel

Plasma Membrane Na+-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy

Export this record

Export record to excel

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Export this record

Export record to excel

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Export this record

Export record to excel

Critical roles of αII spectrin in brain development and epileptic encephalopathy

Export this record

Export record to excel

CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

Export this record

Export record to excel

Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy

Export this record

Export record to excel

KCNQ2‐DEE: developmental or epileptic encephalopathy?

Export this record

Export record to excel

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy

Export this record

Export record to excel

Infantile-Onset Epileptic Encephalopathy - A Treatable Cause

Export this record

Export record to excel

RARS1‐related developmental and epileptic encephalopathy

Export this record

Export record to excel

SCN1B‐linked early infantile developmental and epileptic encephalopathy

Export this record

Export record to excel

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy

Export this record

Export record to excel

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

Export this record

Export record to excel

Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

Export this record

Export record to excel

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

Export this record

Export record to excel

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

Export this record

Export record to excel

ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

Export this record

Export record to excel

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Refine your search