Cargando…

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by reversible phosphorylation of its E1α-subunit. BCKDK...

Descripción completa

Detalles Bibliográficos
Autores principales:	Boemer, François, Josse, Claire, Luis, Géraldine, Di Valentin, Emmanuel, Thiry, Jérôme, Cello, Christophe, Caberg, Jean-Hubert, Dadoumont, Caroline, Harvengt, Julie, Lumaka, Aimé, Bours, Vincent, Debray, François-Guillaume
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878489/ https://www.ncbi.nlm.nih.gov/pubmed/35216372 http://dx.doi.org/10.3390/ijms23042253

Ejemplares similares

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours
por: Lumaka, Aimé, et al.
Publicado: (2023)

HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome
por: Harvengt, J., et al.
Publicado: (2023)

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy
por: Beckers, Pablo, et al.
Publicado: (2021)

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

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

Tryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy
por: Onesti, Concetta Elisa, et al.
Publicado: (2019)

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)

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

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)

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

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases
por: Boemer, F., et al.
Publicado: (2017)

BCKDK alters the metabolism of non-small cell lung cancer
por: Wang, Yanhui, et al.
Publicado: (2021)

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy
por: Shiraku, Hiroshi, et al.
Publicado: (2018)

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

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
por: Johannesen, Katrine M., et al.
Publicado: (2021)

Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy
por: Wang, Wanqi, et al.
Publicado: (2020)

Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet?
por: Scheffer, Ingrid E.
Publicado: (2021)

Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature
por: Han, Xiaodi, et al.
Publicado: (2022)

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy
por: Aronica, Eleonora, et al.
Publicado: (2023)

Dataset on the psychosocial impact in families with children with developmental and epileptic encephalopathies
por: Salom, Rafael, et al.
Publicado: (2023)

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

Hashimoto's encephalopathy as a treatable cause of corticobasal disease
por: Sheetal, Sasi Kumar, et al.
Publicado: (2016)

A Treatable Encephalopathy in a Peritoneal Dialysis Patient - Cefepime-Induced Encephalopathy
por: Khoo, Ching Soong, et al.
Publicado: (2019)

Screening of germline mutations in young Rwandan patients with breast cancers
por: Uyisenga, Jeanne P., et al.
Publicado: (2020)

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment
por: Bravo-Alonso, I., et al.
Publicado: (2016)

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

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
por: Sun, Xiaomin, et al.
Publicado: (2019)

SCN1B‐linked early infantile developmental and epileptic encephalopathy
por: Aeby, Alec, et al.
Publicado: (2019)

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

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

An Emerging Role for Sigma-1 Receptors in the Treatment of Developmental and Epileptic Encephalopathies
por: Martin, Parthena, et al.
Publicado: (2021)

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

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
por: Stamberger, Hannah, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_02p0v6qod3rfqeupf1nc4ej4k7