Cargando…

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Spagnoli, Carlotta, Fusco, Carlo, Percesepe, Antonio, Leuzzi, Vincenzo, Pisani, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072943/ https://www.ncbi.nlm.nih.gov/pubmed/33919646 http://dx.doi.org/10.3390/ijms22084202

Ejemplares similares

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

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review
por: Spagnoli, Carlotta, et al.
Publicado: (2021)

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

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study
por: Mastrangelo, Mario, et al.
Publicado: (2022)

Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
por: Beltrán-Corbellini, Álvaro, et al.
Publicado: (2022)

Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics
por: Chang, Yu-Tzu, et al.
Publicado: (2023)

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

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
por: Chatron, Nicolas, et al.
Publicado: (2020)

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

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies
por: Happ, Hannah C., et al.
Publicado: (2020)

The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy
por: Whitney, Robyn, et al.
Publicado: (2023)

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy
por: Hung, Kun-Long, et al.
Publicado: (2022)

Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report
por: Nagarajan, Lakshmi, et al.
Publicado: (2022)

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
por: Bott, Laura C, et al.
Publicado: (2021)

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

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy
por: Ko, Ara, et al.
Publicado: (2018)

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families
por: Jeffrey, Jennifer S., et al.
Publicado: (2021)

Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus
por: Fusco, Carlo, et al.
Publicado: (2021)

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

Dravet Syndrome: A Developmental and Epileptic Encephalopathy
por: Lopez-Santiago, Luis, et al.
Publicado: (2019)

STXBP1-Related Developmental and Epileptic Encephalopathy
por: Wild, Brittani, et al.
Publicado: (2019)

KCNQ2‐DEE: developmental or epileptic encephalopathy?
por: Berg, Anne T., et al.
Publicado: (2021)

RARS1‐related developmental and epileptic encephalopathy
por: Wan, Lin, et al.
Publicado: (2023)

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

Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies
por: Balaji, Aarthi, et al.
Publicado: (2023)

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
por: Vlaskamp, Danique R.M., et al.
Publicado: (2019)

The Role of Epilepsy Surgery in the Treatment of Childhood Epileptic Encephalopathy
por: Kayyali, Husam R., et al.
Publicado: (2013)

Neonatal seizures therapy: we are still looking for the efficacious drug
por: Spagnoli, Carlotta, et al.
Publicado: (2013)

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
por: Takata, Atsushi, et al.
Publicado: (2019)

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy
por: Berecki, Géza, et al.
Publicado: (2020)

The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy
por: Datta, Alexandre N., et al.
Publicado: (2021)

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
por: Ware, Tyson L., et al.
Publicado: (2019)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster
por: Takai, Akari, et al.
Publicado: (2020)

Solute carrier transporter disease and developmental and epileptic encephalopathy
por: Gan, Yajing, et al.
Publicado: (2022)

Advances toward precision therapeutics for developmental and epileptic encephalopathies
por: Bertocchi, Ilaria, et al.
Publicado: (2023)

Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction
por: Spoto, Giulia, et al.
Publicado: (2022)

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
por: Johannesen, Katrine M., et al.
Publicado: (2019)

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies—Data from a Romanian Cohort
por: Riza, Anca-Lelia, et al.
Publicado: (2022)

Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review
por: Rizzi, Susanna, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_2lb75gso6life9mm8maf7516n2