Epileptic and neurodevelopmental encephalopathy associated to SYNGAP1 mutation: Description of a case and treatment response to cannabidiol

Epileptic and neurodevelopmental encephalopathy associated to SYNGAP1 mutation: Description of a case and treatment response to cannabidiol

Bibliographic Details
Main Authors:	Y. López-Moreno, P. Cabezudo-García, N.L. Ciano-Petersen, G. García-Martín, P.J. Serrano-Castro
Format:	Article
Language:	English
Published:	Elsevier España 2024-01-01
Series:	Neurología (English Edition)
Online Access:	http://www.sciencedirect.com/science/article/pii/S2173580823000640

Similar Items

Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review
by: Xingying Zeng, et al.
Published: (2023-02-01)

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
by: Juliana Ribeiro-Constante, et al.
Published: (2024-03-01)

Real-World Evidence of Factors Affecting Cannabidiol Exposure in Children with Drug-Resistant Developmental and Epileptic Encephalopathies
by: Lucas Brstilo, et al.
Published: (2023-08-01)

Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders
by: Liping Zhang, et al.
Published: (2023-11-01)

Early-Onset Epileptic Encephalopathies with STXBPl Mutations
by: J Gordon Millichap
Published: (2010-12-01)

Epileptic Encephalopathies, CDKL5 Mutations, and Infantile Spasms
by: J Gordon Millichap
Published: (2012-02-01)

Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients
by: E. L. Dadali, et al.
Published: (2018-07-01)

A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism
by: N. N. Savelieva, et al.
Published: (2018-07-01)

Safety and efficacy of cannabidiol-cannabidiolic acid rich hemp extract in the treatment of refractory epileptic seizures in dogs
by: Gabriel A. Garcia, et al.
Published: (2022-07-01)

SEVERE EPILEPTIC ENCEPHALOPATHY OF EARLY CHILDHOOD DUE TO SCN2A MUTATION
by: I. S. Bachtin, et al.
Published: (2016-05-01)

Pediatric autoimmune epileptic encephalopathies
by: Wright, S, et al.
Published: (2017)

Inherited Developmental and Epileptic Encephalopathies
by: Emanuele Bartolini
Published: (2021-11-01)

A rare case of Yhwag gene mutation causing developmental and epileptic encephalopathy
by: Karina Lidia Gheorghita, et al.
Published: (2023-09-01)

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy
by: Kun-Long Hung, et al.
Published: (2022-07-01)

Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study
by: María Salcedo-Perez-Juana, et al.
Published: (2023-11-01)

Neuropathology of epileptic encephalopathies and non-paroxysmal epileptic disorders and principles of their treatment
by: L. R. Zenkov
Published: (2010-06-01)

Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
by: Hind AlMaghthawi, et al.
Published: (2018-06-01)

Neuroprotection of cannabidiol in epileptic rats: Gut microbiome and metabolome sequencing
by: Xiaoxiang Gong, et al.
Published: (2022-11-01)

Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype
by: Eoin P. Donnellan, et al.
Published: (2024-01-01)

Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations
by: K. Yu. Mukhin, et al.
Published: (2021-07-01)

RARS1‐related developmental and epileptic encephalopathy
by: Lin Wan, et al.
Published: (2023-09-01)

STXBP1-Related Developmental and Epileptic Encephalopathy
by: Brittani Wild, et al.
Published: (2019-12-01)

STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy
by: Mirella Vinci, et al.
Published: (2023-11-01)

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report
by: Maoqiang Tian, et al.
Published: (2022-04-01)

Modeling genetic epileptic encephalopathies using brain organoids
by: Daniel J Steinberg, et al.
Published: (2021-08-01)

Advances toward precision therapeutics for developmental and epileptic encephalopathies
by: Ilaria Bertocchi, et al.
Published: (2023-04-01)

Solute carrier transporter disease and developmental and epileptic encephalopathy
by: Yajing Gan, et al.
Published: (2022-11-01)

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
by: Lesca, G, et al.
Published: (2013)

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
by: Lesca, G, et al.
Published: (2013)

Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies.
by: Suleiman, J, et al.
Published: (2011)

Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report
by: Ying Yu, et al.
Published: (2022-09-01)

Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
by: E. L. Dadali, et al.
Published: (2020-01-01)

Novel Missense <i>CACNA1G</i> Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy
by: Géza Berecki, et al.
Published: (2020-08-01)

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy
by: Xiao-jun LIU, et al.
Published: (2018-06-01)

Social behavioral impairments in SYNGAP1-related intellectual disability
by: Hajer Naveed, et al.
Published: (2023-11-01)

UNDERSTANDING THE ROLE OF SYNGAP1 IN GABAERGIC CIRCUIT DEVELOPMENT AND FUNCTION
by: Vidya Jadhav, et al.
Published: (2023-10-01)

MECHANISMS UNDERLYING SENSORY PROCESSING ALTERATIONS IN SYNGAP1 HAPLOINSUFFICIENCY
by: Graziella Di Cristo, et al.
Published: (2023-10-01)

MOLECULAR ALTERATIONS UNDERLYING SYNAPTIC DYSFUNCTION IN SYNGAP1 HAPLOINSUFFICIENCY
by: Àlex Bayés, et al.
Published: (2023-10-01)

Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice
by: Ryuichi Nakajima, et al.
Published: (2019-09-01)

Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders
by: Wenlin Chen, et al.
Published: (2022-03-01)