Results 101 to 110 of about 118,836 (248)

Severe KCNT1-related developmental and epileptic encephalopathy

Эпилепсия и пароксизмальные состояния
Developmental and epileptic encephalopathy (DEE) caused by a mutation in the KCNT1 gene (KCNT1-DEE) is registered in the Online Mendelian Inheritance in Man (OMIM) catalogue inder code number 614959.
A. G. Malov, L. Yu. Brokhin, A. V. Veselkova   +2 more
doaj   +1 more source

Unique EEG signature of atypical absence seizures in SYNGAP1‐related developmental and epileptic encephalopathy

Epileptic Disorders, EarlyView.
Rainier Mark Loidor L. Rapal, Joshua Chang, Douglas Nordli III   +2 more
wiley   +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 myoclonic epileptic encephalopathy (E.M.E.E.)

, 1983
The authors describe the electroclinical aspects and evolution of nine cases of myoclonic epileptic encephalopathy which began between two days and ten weeks of life.
G. Capovilla, DALLA BERNARDINA, Bernardo, C. Dravet, J. Roger, O. Dulac, V. Colamaria, N. Fejerman, S. Bondavalli   +7 more
core   +1 more source

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy

Background: HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies.
Sager, Safiye Gunes, Turkyilmaz, AYBERK, Alomarı, Omar, Bebek, Ogun   +3 more
core   +1 more source

Clinical Vignette: Piperacillin/tazobactam‐associated myoclonic status epilepticus in a patient with end‐stage renal failure on hemodialysis

Epileptic Disorders, EarlyView.
O. M. Malanga, G. Giovannelli, G. Pastorelli, S. Fittante, A. Poggesi, E. Rosati   +5 more
wiley   +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

Epileptic encephalopathy syndrome Fragile X (Clinical observation) [PDF]

, 2017
A clinical case of a patient with fragile x syndrome (MSS) is presented. The originality of this observation is the presence of atypical epileptic encephalopathy in the structure of the fragile x syndrome which was confirmed by molecular-genetic ...
Kalashnikova, Т. Р., Основина, Т. А., Malov, A. G., Osnovina, Т. А., Калашникова, Т. П., Малов, А. Г.   +5 more
core  

EEG findings in SERAC1‐related MEGD(H)EL syndrome

Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +1 more source

Postoperative outcomes and predictors of functional sequelae following hemispheric surgery in Rasmussen's encephalitis: A retrospective cohort study from the global pediatric epilepsy surgery registry

Epileptic Disorders, EarlyView.
Abstract Objective Rasmussen's encephalitis (RE) is a rare and progressive, immune‐mediated epileptic encephalopathy characterized by drug‐resistant seizures and neurological decline. While hemispheric disconnection (HD) is the gold standard treatment for effective seizure control, this procedure carries significant risk of permanent neurological ...
Krish Nair, Nicholas Benjamin, Emily Harford, Levi Shelton, Ariel Heller, Katherine Cobb‐Pitstick, Luis Fernandez, Ross Carson, Monika Jones, William Welch, Taylor J. Abel, Ruba Al‐Ramadhani   +11 more
wiley   +1 more source