Copertina

Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood‐onset ornithine transcarbamylase deficiency

Fuente: Wiley Open Access

Salvato in:

Dettagli Bibliografici
Autori principali:	José Augusto Bragatti, Letícia Grigoletto
Natura:	Artículo Open Access
Pubblicazione:	Wiley 2026
Soggetti:	Epileptic Disorders
Accesso online:	Acceder al recurso
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!

Documenti analoghi

Reading‐induced reflex orofacial myoclonia in an adolescent girl
di: Xiaoli Wang, et al.
Pubblicazione: (2024)

Co‐occurrence of childhood absence epilepsy and self‐limited focal epilepsy interictal discharges: Differences from childhood absence epilepsy alone
di: Giulia Barbagallo, et al.
Pubblicazione: (2025)

CHD2‐related epilepsy with eyelid myoclonia: Report of three cases
di: Hannah Padilla, et al.
Pubblicazione: (2024)

Epilepsy with eyelid myoclonia in a patient with ATP1A3‐related neurologic disorder
di: Ann Mertens, et al.
Pubblicazione: (2024)

A unique case of tactile‐induced reflex myoclonic epilepsy of infancy evolving into childhood absence epilepsy
di: Jeffrey Rodgers, et al.
Pubblicazione: (2024)

Somatosensory evoked potentials in patients with typical absences
di: Merve Asikovali, et al.
Pubblicazione: (2025)

TUBA1A ‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures
di: Andy Cheuk‐Him Ng, et al.
Pubblicazione: (2025)

Guanidinoacetate methyltransferase deficiency presenting as epileptic encephalopathy: A clinical vignette
di: Baharak Maddahi, et al.
Pubblicazione: (2026)

Late onset unprovoked seizures in DiGeorge syndrome
di: Monika Thapa, et al.
Pubblicazione: (2025)

Electroclinical features of myoclonic‐tonic and spasm‐tonic seizures in childhood
di: Mohamed Taha, et al.
Pubblicazione: (2024)

Recurrent catamenial absence status epilepticus persisting in post‐menopausal period: The pivotal role of video‐EEG
di: Chiara Reale, et al.
Pubblicazione: (2024)

Features of cognitive dysfunction in late‐onset temporal lobe epilepsy
di: Naoya Hasegawa, et al.
Pubblicazione: (2025)

The sound of silence: Quantification of typical absence seizures by sonifying EEG signals from a custom‐built wearable device
di: Daniel Filipe Borges, et al.
Pubblicazione: (2024)

Characteristics and treatment of midlife‐onset epilepsy: A 24‐year single‐center, retrospective study
di: Xu Zhang, et al.
Pubblicazione: (2024)

Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome
di: Raffaele Falsaperla, et al.
Pubblicazione: (2025)

Introduction and modification of the ketogenic diet in an adult patient with glucose transporter 1 deficiency syndrome
di: Shin Nabatame, et al.
Pubblicazione: (2024)

Ictal dancing following right temporal seizure onset—Evidence for a distributed network
di: Leo Y. Zhang, et al.
Pubblicazione: (2026)

Does the absence or presence of sleep spindles on EEG have prognostic value for cognitive outcome in children with infantile epileptic spasms syndrome? A systematic literature review
di: Jaana Lähdetie, et al.
Pubblicazione: (2024)

Adult‐onset drug‐resistant progressive epilepsy in a patient with novel MECP2 mutation
di: Sophey Ho, et al.
Pubblicazione: (2025)

Glucose transporter type 1 deficiency syndrome: Phenotypes, molecular findings, and ketogenic therapy implementation in Argentina
di: Marisa Laura Armeno, et al.
Pubblicazione: (2026)

Two familial cases of infantile epileptic spasms syndrome associated with UDP‐glucose‐6‐dehydrogenase deficiency
di: C. Suyo, et al.
Pubblicazione: (2024)

AI language model applications for early diagnosis of childhood epilepsy based on unstructured first‐visit patient narratives: A cohort study
di: Jitse Loyens, et al.
Pubblicazione: (2025)

Correction to “Two familial cases of infantile epileptic spasms syndrome associated with UDP ‐glucose‐6‐dehydrogenase deficiency”
Pubblicazione: (2025)

Late‐onset temporal lobe epilepsy: Enlarged amygdala‐hippocampus indicates interictal epileptic activity at electroencephalography and memory impairment
di: Hirofumi Takeyama, et al.
Pubblicazione: (2025)

Latency to presentation after seizure onset and drug resistance to a comprehensive epilepsy center in an urban tertiary care center
di: Meghana Srinivas, et al.
Pubblicazione: (2025)

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature
di: D. Kapoor, et al.
Pubblicazione: (2025)

Response to: Middle‐aged woman presenting with new‐onset status epilepticus and family history of MELAS syndrome but negative mtDNA testing
di: Wankiun Lee
Pubblicazione: (2026)

A controversial question: Can morphometry and clinical history be enough to diagnose hippocampal dysplasia?
di: Ianne Lucena Arruda, et al.
Pubblicazione: (2024)

Epileptic encephalopathies secondary to hypothalamic hamartomas treated with radiosurgery: A case series
di: Esteban Jaramillo‐Jiménez, et al.
Pubblicazione: (2024)

Radiofrequency thermocoagulation for the treatment of refractory focal status epilepticus
di: Odile Feys, et al.
Pubblicazione: (2025)

Lacosamide‐induced dyskinesias in a child patient with drug‐resistant epilepsy
di: Márcio Pinheiro Lima, et al.
Pubblicazione: (2026)

Vagus nerve stimulation for drug‐resistant epilepsy and predictors for seizure freedom: A nationwide multicenter cohort study in Mexico
di: María F. Castelo‐Pablos, et al.
Pubblicazione: (2026)

A systematic review of human status epilepticus in organophosphate poisoning: A real‐world Stage 1 Plus model?
di: Giuseppe Magro, et al.
Pubblicazione: (2026)

A guide to neuromodulation in drug‐resistant epilepsy
di: Prachi Parikh, et al.
Pubblicazione: (2026)

A curriculum for epilepsy surgery: A report from the Surgical Commission's Epilepsy Surgery Educational Task Force and the Educational Council of the ILAE
di: Christian Dorfer, et al.
Pubblicazione: (2025)

Podcast‐induced reflex seizures: A unique trigger
di: David W. Cao, et al.
Pubblicazione: (2026)

Shared genetics in epilepsy and migraine: A scoping review
di: Prachi Sahu, et al.
Pubblicazione: (2025)

A practical guide to the updated seizure classification 2025
di: Sándor Beniczky, et al.
Pubblicazione: (2025)

Clinical vignette: Generalized epilepsy associated with TRMT1 mutation in two siblings
di: Nuria Lamagrande Casanova, et al.
Pubblicazione: (2026)

Ictal semiology in fronto‐opercular epilepsy: A systematic review
di: Zeynep Gokce‐Samar, et al.
Pubblicazione: (2026)