Cargando…

Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review

BACKGROUND: KCNQ2 encephalopathy is characterized by neonatal-onset epilepsy and developmental impairment, due to “de novo” KCNQ2 pathogenic variants. According to literature data, sodium channel blocking agents appear to be the best treatment options for the disease. Reports describing the use of k...

Descripción completa

Detalles Bibliográficos
Autores principales:	Falsaperla, Raffaele, Marino, Simona Domenica, Salomone, Giulia, Madia, Francesca, Marino, Silvia, Tardino, Lucia Giovanna, Scalia, Bruna, Ruggieri, Martino
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	AME Publishing Company 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9986782/ https://www.ncbi.nlm.nih.gov/pubmed/36891363 http://dx.doi.org/10.21037/tp-22-258

Ejemplares similares

Need for palliative care from birth to infancy in pediatric patients with neurological diseases
por: Falsaperla, Raffaele, et al.
Publicado: (2023)

Neonatal neurologic emergencies requiring access to paediatric emergency units: a retrospective observational study
por: Falsaperla, Raffaele, et al.
Publicado: (2022)

West syndrome: a comprehensive review
por: Pavone, Piero, et al.
Publicado: (2020)

Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller–Dieker Syndrome
por: Falsaperla, Raffaele, et al.
Publicado: (2018)

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report
por: Pavone, Piero, et al.
Publicado: (2023)

Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly
por: Marino, Silvia, et al.
Publicado: (2021)

Is SARSCoV-2 nasopharyngeal swab still a gold standard in children?
por: Marino, Silvia, et al.
Publicado: (2020)

Epileptic spasms in infants: can video-EEG reveal the disease’s etiology? A retrospective study and literature review
por: Falsaperla, Raffaele, et al.
Publicado: (2023)

Benign and severe early-life seizures: a round in the first year of life
por: Pavone, Piero, et al.
Publicado: (2018)

Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions
por: Pavone, Piero, et al.
Publicado: (2022)

Graph theory in paediatric epilepsy: A systematic review
por: Falsaperla, Raffaele, et al.
Publicado: (2022)

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
por: Falsaperla, Raffaele, et al.
Publicado: (2020)

Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review
por: Pavone, Piero, et al.
Publicado: (2023)

Febrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new cases
por: Pavone, Piero, et al.
Publicado: (2022)

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
por: Pavone, Piero, et al.
Publicado: (2019)

Impressive Nasal Septum Regeneration after Cord Blood Platelet Gel (CBPG) in Extreme Premature Neonate with Non-Invasive Ventilation: A Case Report
por: Falsaperla, Raffaele, et al.
Publicado: (2022)

Treating the symptom or treating the disease in neonatal seizures: a systematic review of the literature
por: Falsaperla, Raffaele, et al.
Publicado: (2021)

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

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome
por: Pavone, Piero, et al.
Publicado: (2022)

Chromosome 15q BP4–BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment
por: Pavone, Piero, et al.
Publicado: (2020)

Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesis
por: Pavone, Piero, et al.
Publicado: (2019)

Diagnostic controversies in recurrent painful ophthalmoplegic neuropathy: single case report with a systematic review
por: Falsaperla, Raffaele, et al.
Publicado: (2022)

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

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

Efficacy of the anti-seizure medications in acute symptomatic neonatal seizures caused by stroke. A systematic review
por: Sortino, Vincenzo, et al.
Publicado: (2022)

The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review
por: Cacciaguerra, Giovanni, et al.
Publicado: (2021)

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
por: Pavone, Piero, et al.
Publicado: (2022)

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy
por: Pavone, Piero, et al.
Publicado: (2020)

A novel GABRB3 variant in Dravet syndrome: Case report and literature review
por: Pavone, Piero, et al.
Publicado: (2020)

NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review
por: Sciacca, Monica, et al.
Publicado: (2022)

KCNQ2 Encephalopathy and Effect of Early Treatment on the Clinical Phenotype
por: Kamate, Mahesh, et al.
Publicado: (2022)

SARS-CoV-2 and Swabs: Disease Severity and the Numbers of Cycles of Gene Amplification, Single Center Experience
por: Falsaperla, Raffaele, et al.
Publicado: (2023)

Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review
por: Pavone, Piero, et al.
Publicado: (2023)

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?
por: Dalen Meurs-van der Schoor, Charlotte, et al.
Publicado: (2014)

Keeping up with KCNQ2: A New Model of Epileptic Encephalopathy
por: Bottom-Tanzer, Samantha, et al.
Publicado: (2022)

Evidences of emerging pain consciousness during prenatal development: a narrative review
por: Falsaperla, Raffaele, et al.
Publicado: (2022)

Observational study on the efficiency of Neonatal Emergency Transport in reducing mortality and morbidity indexes in Sicily
por: Falsaperla, Raffaele, et al.
Publicado: (2021)

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

Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy
por: Zhang, Jiaren, et al.
Publicado: (2020)

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review
por: Chen, Jun, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_i621j2dgg9vha36cpe0r80qich