Cargando…

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Whole exome sequencing (WES) has revolutionized the way we think about and diagnose epileptic encephalopathies. Multiple recent review articles discuss the benefits of WES and suggest various algorithms to follow for determining the etiology of epileptic encephalopathies. Incorporation of WES in the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Joshi, Charuta, Kolbe, Diana L., Mansilla, M. Adela, Mason, Sara O., Smith, Richard J. H., Campbell, Colleen A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875968/ https://www.ncbi.nlm.nih.gov/pubmed/27243033 http://dx.doi.org/10.1155/2016/6421039

Ejemplares similares

Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes
por: Hwang, Su-Kyeong, et al.
Publicado: (2015)

Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies
por: Trollmann, Regina
Publicado: (2021)

GRIN1 Mutations in Early-Onset Epileptic Encephalopathy
por: Chen, Wenjuan, et al.
Publicado: (2015)

Epileptic Encephalopathy
por: Specchio, Nicola, et al.
Publicado: (2012)

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism
por: Spagnoli, Carlotta, et al.
Publicado: (2023)

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy
por: Alsahli, Saud, et al.
Publicado: (2018)

Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy
por: Vitaliti, Giovanna, et al.
Publicado: (2019)

On the edge—A diagnostic odyssey
por: McLean, Hailey, et al.
Publicado: (2022)

Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey
por: Johnson, Nicholas E.
Publicado: (2015)

Epileptic Encephalopathies: An Overview
por: Khan, Sonia, et al.
Publicado: (2012)

Epileptic Encephalopathies in Children
por: Tabarki, Brahim, et al.
Publicado: (2013)

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy
por: Efthymiou, Stephanie, et al.
Publicado: (2021)

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition
por: Bauskis, Alicia, et al.
Publicado: (2022)

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
por: Palmer, Elizabeth E., et al.
Publicado: (2018)

The evolution of the mitochondrial disease diagnostic odyssey
por: Thompson, John L. P., et al.
Publicado: (2023)

Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy
por: Liu, Li-Li, et al.
Publicado: (2017)

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
por: Córdoba, Marta, et al.
Publicado: (2018)

Epileptic Encephalopathies in Adults and Childhood
por: Kural, Zekiye, et al.
Publicado: (2012)

Early infantile epileptic encephalopathies
por: Fois, Alberto
Publicado: (2014)

Ketogenic Diet in Epileptic Encephalopathies
por: Sharma, Suvasini, et al.
Publicado: (2013)

Metabolic Causes of Epileptic Encephalopathy
por: Yu, Joe Yuezhou, et al.
Publicado: (2013)

Inherited Developmental and Epileptic Encephalopathies
por: Bartolini, Emanuele
Publicado: (2021)

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
por: Mak, Christopher CY, et al.
Publicado: (2018)

Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey
por: Suthar, Renu, et al.
Publicado: (2021)

Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective
por: Erdem Ozdamar, Sevim, et al.
Publicado: (2023)

The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy
por: Mefford, Heather C.
Publicado: (2019)

The impact of COVID-19 on pediatric diagnostic odysseys
por: Waltz, Margaret, et al.
Publicado: (2021)

Diagnostic odyssey of acute disseminated encephalomyelitis in children
por: Takahashi, Yoko, et al.
Publicado: (2021)

Ornithine transcarbamylase deficiency: A diagnostic odyssey
por: Knerr, Ina, et al.
Publicado: (2022)

Correction to: The evolution of the mitochondrial disease diagnostic odyssey
por: Thompson, John L. P., et al.
Publicado: (2023)

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
por: Pierson, Tyler Mark, et al.
Publicado: (2014)

Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
por: Tian, Xiaoyu, et al.
Publicado: (2021)

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
por: de Valles‐Ibáñez, Guillem, et al.
Publicado: (2021)

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review
por: Arisaka, Atsuko, et al.
Publicado: (2020)

Cost Analysis and Clinical Outcomes of Ambulatory Care Monitoring in Medicare Patients: Describing the Diagnostic Odyssey
por: Arnold, Renée JG, et al.
Publicado: (2015)

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression
por: Rochtus, Anne M., et al.
Publicado: (2019)

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
por: Sadleir, Lynette G., et al.
Publicado: (2017)

Surgical Treatment of Pediatric Epileptic Encephalopathies
por: Fridley, J., et al.
Publicado: (2013)

Diagnosis and Management of Epileptic Encephalopathies in Children
por: Jain, Puneet, et al.
Publicado: (2013)

Vitamin-Responsive Epileptic Encephalopathies in Children
por: Agadi, Satish, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_me678ndsvc6jarkfi3pt02ruln