Results 181 to 190 of about 3,613 (236)

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants. [PDF]

Ital J Pediatr
Papuc SM, Glangher A, Erbescu A, Arsene OT, Arghir A, Budisteanu M.   +5 more
europepmc   +1 more source

Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy [PDF]

Karen Willième, Annelies Dheedene, Arnaud Vanlander, Patrick Verloo, Hélène Verhelst   +4 more
openalex   +1 more source

Role of the Ketogenic Diet Therapy and ACTH as Second Treatments in Drug-Resistant Infantile Epileptic Spasms Syndrome. [PDF]

Nutrients
Dressler A, Bonfanti L, Trimmel-Schwahofer P, Porsche B, Bertoli S, Male C.   +5 more
europepmc   +1 more source

MECP2 duplication syndrome-Typical EEG characteristics. [PDF]

Epileptic Disord
Otu W, Sudhakaran R, Garza-Garcia G, Parekh K, Sheikh IS.   +4 more
europepmc   +1 more source

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing. [PDF]

Genes (Basel)
Sunnetci-Akkoyunlu D, Kara B, Ozer T, Deniz A, Sakarya-Gunes A, Isik EB, Dogruoglu B, Ilkay Z, Yilmaz M, Sahin S, Eren-Keskin S, Cine N, Savli H.   +12 more
europepmc   +1 more source

Characterization of Hypsarrhythmias secondary to Congenital Syndrome of Zika and West Syndrome based on Joint Moments and Entropy Measures

, 2022
Priscila Lima Rocha
openalex   +1 more source

Upward eye deviation as a precursor to epileptic spasms: A case successfully treated with early corpus callosotomy without adrenocorticotropic hormone therapy. [PDF]

Epilepsy Behav Rep
Iimura Y, Suzuki H, Mitsuhashi T, Ueda T, Nishioka K, Nomura K, Abe S, Akiba T, Matsuda S, Sugano H, Kondo A.   +10 more
europepmc   +1 more source

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study. [PDF]

Front Neurol
Yu X, Zhang X, Qiu S, Yang L, Li X, Shi D.   +5 more
europepmc   +1 more source

TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures. [PDF]

Epileptic Disord
Ng AC, Scantlebury MH.
europepmc   +1 more source

The Oral Findings and Dental Management of Patients with West Syndrome: A Case Series and Literature Review. [PDF]

J Clin Med
Limeres-Posse J, Muñoz-Navarro C, García-Mato E, Sande-López L, Diniz-Freitas M, Diz-Dios P, Rivas-Mundiña B.   +6 more
europepmc   +1 more source