- Seizures in Childhood: Aetiology, Diagnosis, Treatment, and What the Future May Hold
Sara Rubenstein et al, 2019, EMJ Neurology CrossRef - Clinical application of next-generation sequencing to the practice of neurology
Jessica Rexach et al, 2019, The Lancet Neurology CrossRef - From Genetic Testing to Precision Medicine in Epilepsy
Pasquale Striano et al, 2020, Neurotherapeutics CrossRef - Liquid biopsies in epilepsy: biomarkers for etiology, diagnosis, prognosis, and therapeutics
Jordan H. Whitlock et al, 2022, Human Cell CrossRef - The association between early childhood onset epilepsy and attention-deficit hyperactivity disorder (ADHD) in 3237 children and adolescents with Autism Spectrum Disorder (ASD): a historical longitudinal cohort data linkage study
Lauren Carson et al, 2023, European Child & Adolescent Psychiatry CrossRef - Temporal Lobe Epilepsy: What do we understand about protein alterations?
Nadia Perveen et al, 2021, Chemical Biology & Drug Design CrossRef - Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease
Krami Al Mehdi et al, 2019, BioMed Research International CrossRef - Modelling epilepsy in the mouse: challenges and solutions
Grant F. Marshall et al, 2021, Disease Models & Mechanisms CrossRef - Epilepsy panel testing criteria: A clinical assessment
Andrew C. Fazenbaker et al, 2024, Journal of Genetic Counseling CrossRef - Phenotypic Diversity of 15q11.2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review
Ji Yoon Han et al, 2021, Diagnostics CrossRef - A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
Charles Marques Lourenço et al, 2024, Arquivos de Neuro-Psiquiatria CrossRef - De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Annalisa G Sega et al, 2019, Journal of Medical Genetics CrossRef - Sudden unexpected death in genetic epileptic encephalopathies: a role of neurocardiac genes
E. D. Belousova et al, 2018, Epilepsia and paroxyzmal conditions CrossRef - The Ketogenic and Modified Atkins Diet Therapy for Children With Refractory Epilepsy of Genetic Etiology
Spoorthi Jagadish et al, 2019, Pediatric Neurology CrossRef - Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
Marina Andjelkovic et al, 2024, Molecular Diagnosis & Therapy CrossRef