Results 141 to 150 of about 62,047 (246)

Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities. [PDF]

Front Radiol
Ferreira EA, Oud MM, Kamsteeg EJ, van Karnebeek CDM, Langeveld M, Leter EM, Vogel MJ, Wolf NI, Roosendaal SD, van Dillen JJ, Schijns OEMG, Tousseyn S, Hoeberigs C, Rouhl RPW, van der Crabben SN.   +14 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity. [PDF]

Epilepsia Open
Jadhav T, Bouffler SE, Innes E, Fahey M, Hunter M, Kothur K, Lunke S, Lynch M, Macdonald-Laurs E, Palmer EE, Patel C, Pinner J, Riney K, Sachdev R, Sandaradura SA, Scheffer IE, Stark Z, Howell KB.   +17 more
europepmc   +1 more source

Dietary patterns in children with epilepsy: The role of household environment and clinical comorbidities

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate dietary patterns in children with epilepsy and compare them with age‐ and sex‐matched healthy siblings living in the same household environment. Associations between clinical characteristics and dietary adequacy were also examined.
Ana Claudia Cândido Oliveira, Maria Eduarda Pereira Santana, Giuliane V. M. Zanin, Jaqueline Lamas da Silva, Camila Borelli Zeller, Ana Carolina Coan   +5 more
wiley   +1 more source

Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum. [PDF]

J Clin Med
Bayanova M, Nazarova L, Zhakupov A, Malik D, Gabdulkayum A, Mirmanova Z, Satvaldina N, Rakhimova S, Akilzhanova A, Yerezhepov D, Bolatov A.   +10 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Clinical efficacy and predictive model development for levetiracetam in children with newly diagnosed epilepsy of unknown etiology. [PDF]

Transl Pediatr
Yan H, Hou Y, Cao X, Wan L, Li Z, Zu J, Yang G.   +6 more
europepmc   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

Clinical and genetic analysis of PRRT2 gene mutations in a cohort of 21 pediatric patients: a case series. [PDF]

Front Pediatr
Zheng X, Lin C.
europepmc   +1 more source

Predicting seizure freedom in the postpartum period: Findings from the Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to evaluate whether seizure freedom in pregnancy predicts seizure freedom in the postpartum period in women with epilepsy (WWE). Prior studies have shown that seizure freedom prior to conception strongly predicts seizure freedom during pregnancy.
Emma C. Osterhaus, Wesley T. Kerr, Kimford J. Meador, Jacqueline A. French, Angela K. Birnbaum, P. Emanuela Voinescu, Elizabeth Gerard, Page B. Pennell   +7 more
wiley   +1 more source