المؤلفون: Amin S; University Hospitals Bristol, Bristol, UK., Møller RS; The Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Aledo-Serrano A; Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Arzimanoglou A; San Juan de Dios Children's Hospital, Barcelona, Spain., Bager P; CDKL5 Deutschland e.V., Mainz, Germany., Jóźwiak S; The Children's Memorial Health Institute, Warsaw, Poland., Kluger GJ; Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.; Paracelsus Medical University Salzburg, Salzburg, Austria., López-Cabeza S; Asociación de Afectados CDKL5, Madrid, Spain., Nabbout R; Necker-Enfants Malades Hospital, Université Paris Cité, Imagine Institute, Paris, France., Partridge CA; CDKL5 UK, Somerset, UK., Schubert-Bast S; Center of Neurology and Neurosurgery, Epilepsy Center Frankfurt Rhine-Main, Goethe-University and University Hospital Frankfurt, Frankfurt am Main, Germany.; LOEWE Center for Personalized and Translational Epilepsy Research (CePTER), Goethe-University, Frankfurt am Main, Germany.; University Children's Hospital, Goethe-University and University Hospital Frankfurt, Frankfurt am Main, Germany., Specchio N; Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Kälviäinen R; University of Eastern Finland and Epilepsy Center, Kuopio University Hospital, Kuopio, Finland.

المصدر: Epilepsia open [Epilepsia Open] 2024 Jun; Vol. 9 (3), pp. 832-849. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

مواضيع طبية MeSH: Epileptic Syndromes*/therapy , Epileptic Syndromes*/diagnosis , Quality of Health Care*, Humans ; Europe ; Expert Testimony ; Protein Serine-Threonine Kinases/genetics ; Epilepsy/therapy ; Spasms, Infantile/therapy

SCR Disease Name: CDKL5 deficiency disorder

المؤلفون: Massey S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia., Ang CS; The Bio21 Institute of Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia., Davidson NM; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia.; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia., Quigley A; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia., Rollo B; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia., Harris AR; Department of Biomedical Engineering, University of Melbourne, Melbourne, 3010, Australia., Kapsa RMI; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., J Van Bergen N; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia. N.van@unimelb.edu.au.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia. N.van@unimelb.edu.au.; Department of Paediatrics, University of Melbourne, c/o MCRI, 50 Flemington Road, Parkville, VIC, 3052, Australia. N.van@unimelb.edu.au.

المصدر: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Aug 13; Vol. 81 (1), pp. 347. Date of Electronic Publication: 2024 Aug 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/cytology , Neurons*/metabolism , Neurons*/cytology , Protein Serine-Threonine Kinases*/metabolism , Protein Serine-Threonine Kinases*/genetics , Epileptic Syndromes*/metabolism , Epileptic Syndromes*/genetics , Epileptic Syndromes*/pathology , Spasms, Infantile*/metabolism , Spasms, Infantile*/genetics , Spasms, Infantile*/pathology, Humans ; Phosphorylation

SCR Disease Name: CDKL5 deficiency disorder

المؤلفون: Nordli DR 3rd; Department of Neurology, University of Chicago, Chicago, IL, USA., Mclaren JR; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA., Araujo G; Department of Pediatric Neurology, Nemours Children's Health, Jacksonville, FL, USA., Gupta M; Department of Pediatrics, Children's Hospital of Los Angeles, Los Angeles, CA, USA., Nordli DR Jr; Department of Neurology, University of Chicago, Chicago, IL, USA., Galan F; Department of Pediatric Neurology, Nemours Children's Health, Jacksonville, FL, USA.

المصدر: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Jun; Vol. 66 (6), pp. 691-701. Date of Electronic Publication: 2023 Dec 23.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Epileptic Syndromes*/diagnosis , Epileptic Syndromes*/physiopathology , Developmental Disabilities*/physiopathology , Developmental Disabilities*/diagnosis, Humans ; Child ; Electroencephalography ; Epilepsy/diagnosis ; Epilepsy/physiopathology ; Epilepsy/complications

المؤلفون: Keeley J; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Benson-Goldberg S; Center for Literacy and Disability Studies, Department of Health Sciences, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Saldaris J; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Lariviere J; Assistive Tech 4 ALL, Inc., Rancho Cordova, California, USA., Leonard H; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Demarest ST; Department of Pediatrics and Neurology, School of Medicine, University of Colorado Precision Medicine Institute, Children's Hospital Colorado, Aurora, Colorado, USA., Benke TA; Children's Hospital Colorado, Paediatrics and Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA., Jacoby P; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Downs J; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; Curtin School of Allied Health, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63570. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Caregivers*/psychology , Epileptic Syndromes*/genetics , Spasms, Infantile*/genetics , Spasms, Infantile*/physiopathology , Spasms, Infantile*/diagnosis , Protein Serine-Threonine Kinases*/genetics , Communication*, Humans ; Female ; Male ; Child ; Adolescent ; Adult ; Child, Preschool ; Young Adult ; Qualitative Research

SCR Disease Name: CDKL5 deficiency disorder

المؤلفون: Saldaris J; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia., Leonard H; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia., Wong K; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia., Jacoby P; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia., Spence M; Children's Hospital Colorado Therapy Care, Highlands Ranch, CO, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Benke TA; Children's Hospital Colorado, Paediatric Neurology, University of Colorado School of Medicine, Aurora, CO, USA., Demarest S; Children's Hospital Colorado, Paediatric Neurology, University of Colorado School of Medicine, Aurora, CO, USA., Downs J; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia. Jenny.Downs@telethonkids.org.au.; School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia. Jenny.Downs@telethonkids.org.au.

المصدر: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Jul; Vol. 54 (7), pp. 2526-2535. Date of Electronic Publication: 2023 May 15.

نوع المنشور: Journal Article; Validation Study

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

مواضيع طبية MeSH: Checklist*/methods , Psychometrics*/instrumentation , Psychometrics*/methods , Communication* , Epileptic Syndromes*/diagnosis, Humans ; Male ; Female ; Infant ; Child, Preschool ; Reproducibility of Results ; Adolescent ; Child ; Adult ; Young Adult ; Spasms, Infantile

SCR Disease Name: CDKL5 deficiency disorder

المؤلفون: Caraballo RH; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina. Electronic address: rhcaraballo@arnet.com.ar., Gallo A; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina., Reyes G; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina., Flores G; Department of Neurology, Hospital de Niños Mario Ortiz Suarez, Santa Cruz, Bolivia., Martín E; Genomics Laboratory, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina., Intriago L; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina., Ballesta D; Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina.

المصدر: Epilepsy research [Epilepsy Res] 2024 May; Vol. 202, pp. 107354. Date of Electronic Publication: 2024 Mar 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6844 (Electronic) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE

مواضيع طبية MeSH: Electroencephalography*/methods , Spasms, Infantile*/physiopathology , Spasms, Infantile*/diagnosis , Spasms, Infantile*/complications , Epileptic Syndromes*/diagnosis , Epileptic Syndromes*/physiopathology , Epileptic Syndromes*/complications, Humans ; Male ; Female ; Infant ; Child, Preschool ; Child ; Age of Onset ; Epilepsy/physiopathology ; Epilepsy/diagnosis ; Epilepsy/complications ; Retrospective Studies ; Seizures/physiopathology ; Seizures/diagnosis

المؤلفون: Pestana Knight EM; Elia M. Pestana Knight, Cleveland Clinic Epilepsy Center., Olson HE; Heather E. Olson, Boston Children's Hospital.

المصدر: American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2024 Mar 01; Vol. 129 (2), pp. 101-109.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association on Intellectual and Developmental Disabilities Country of Publication: United States NLM ID: 101492916 Publication Model: Print Cited Medium: Internet ISSN: 1944-7558 (Electronic) Linking ISSN: 19447558 NLM ISO Abbreviation: Am J Intellect Dev Disabil Subsets: MEDLINE

مواضيع طبية MeSH: Spasms, Infantile*/genetics , Epileptic Syndromes*/genetics, United States ; Humans ; Protein Serine-Threonine Kinases/genetics

SCR Disease Name: CDKL5 deficiency disorder

المؤلفون: Kim SH; Division of Pediatric Neurology, Epilepsy Research Institute, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, South Korea., Seo J; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Kwon SS; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Teng LY; Pediatric Neurology Unit, Department of Pediatrics, Hospital Tunku Azizah, Kuala Lumpur, Malaysia., Won D; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Shin S; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Lee JS; Division of Pediatric Neurology, Epilepsy Research Institute, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, South Korea., Lee ST; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Choi JR; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Kang HC; Division of Pediatric Neurology, Epilepsy Research Institute, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, South Korea.

المصدر: Epilepsia [Epilepsia] 2024 Mar; Vol. 65 (3), pp. 766-778. Date of Electronic Publication: 2023 Dec 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Epilepsy*/diagnosis , Spasms, Infantile*/genetics , Spasms, Infantile*/diagnosis , Epileptic Syndromes* , Epilepsies, Myoclonic*/genetics, Child ; Humans ; Male ; Child, Preschool ; Female ; Phenotype ; Mutation ; Protocadherins

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy

المؤلفون: Wong K; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, 15 Hospital Avenue, Nedlands, Perth, WA, 6009, Australia., Junaid M; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, 15 Hospital Avenue, Nedlands, Perth, WA, 6009, Australia., Alexander S; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, 15 Hospital Avenue, Nedlands, Perth, WA, 6009, Australia., Olson HE; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Pestana-Knight EM; Cleveland Clinic, Neurological Institute, Cleveland, OH, USA., Rajaraman RR; UCLA Mattel Children's Hospital, Los Angeles, CA, USA., Downs J; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, 15 Hospital Avenue, Nedlands, Perth, WA, 6009, Australia., Leonard H; Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, 15 Hospital Avenue, Nedlands, Perth, WA, 6009, Australia. Helen.Leonard@telethonkids.org.au.

المصدر: CNS drugs [CNS Drugs] 2024 Sep; Vol. 38 (9), pp. 719-732. Date of Electronic Publication: 2024 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9431220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1934 (Electronic) Linking ISSN: 11727047 NLM ISO Abbreviation: CNS Drugs Subsets: MEDLINE

مواضيع طبية MeSH: Anticonvulsants*/adverse effects , Anticonvulsants*/administration & dosage , Anticonvulsants*/therapeutic use , Epileptic Syndromes*/drug therapy , Seizures*/drug therapy , Caregivers*, Humans ; Male ; Female ; Retrospective Studies ; Child ; Child, Preschool ; Adult ; Adolescent ; Young Adult ; Databases, Factual ; Spasms, Infantile/drug therapy ; Infant ; Cohort Studies

SCR Disease Name: CDKL5 deficiency disorder

المؤلفون: Macdonald-Laurs E; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria 3052Australia.; Department of Neuroscience, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia., Warren AEL; Department of Neuroscience, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Medicine (Austin Health), The University of Melbourne, Heidelberg 3084, Australia., Francis P; Department of Medical Imaging, The Royal Children's Hospital, Parkville 3052, Australia., Mandelstam SA; Department of Neuroscience, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.; Department of Medical Imaging, The Royal Children's Hospital, Parkville 3052, Australia., Lee WS; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.; Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville 3052, Australia., Coleman M; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.; Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville 3052, Australia., Stephenson SEM; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.; Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville 3052, Australia., Barton S; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria 3052Australia.; Department of Neuroscience, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia., D'Arcy C; Department of Pathology, The Royal Children's Hospital, Parkville 3052, Australia., Lockhart PJ; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.; Department of Genomic Medicine, Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville 3052, Australia., Leventer RJ; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria 3052Australia.; Department of Neuroscience, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia., Harvey AS; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria 3052Australia.; Department of Neuroscience, Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville 3052, Australia.

المصدر: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1264-1277.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Malformations of Cortical Development*/genetics , Epilepsies, Partial*/diagnostic imaging , Epilepsies, Partial*/genetics , Epilepsies, Partial*/pathology , Drug Resistant Epilepsy*/diagnostic imaging , Drug Resistant Epilepsy*/genetics , Drug Resistant Epilepsy*/surgery , Epileptic Syndromes*, Humans ; Fluorodeoxyglucose F18 ; Magnetic Resonance Imaging/methods ; Seizures/complications ; TOR Serine-Threonine Kinases ; GTPase-Activating Proteins/genetics