Results 91 to 100 of about 15,708 (241)

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

Epileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Epilepsy surgery in developmental and epileptic encephalopathies

Developmental and epileptic encephalopathies (DEEs) present significant treatment challenges due to frequent, drug-resistant seizures and comorbidities that impact quality of life.
Ramantani, Georgia; https://orcid.org/, Wirrell, Elaine; https://orcid.org/   +1 more
core   +1 more source

Mental health intervention for a child with developmental and/or epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS)

Epilepsy & Behavior Reports
Children with Developmental and Epileptic Encephalopathies experience neurodevelopmental problems from both the epileptic activity and the underlying cause of the condition.
C. Reilly, Roz Shafran, Helen Cross, Millie Wagstaff, Bhavna Sidhpara, J. Idowu, C. Meades, S.D. Bennett   +7 more
doaj   +1 more source

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +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

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

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family

BMJ Neurology Open
Background Epilepsy-related ligand–receptor complex, leucine-rich glioma-inactivated 1 (LGI1)–a disintegrin and metalloproteinase 22 (ADAM22), regulates neuronal excitability and synaptic transmission and has emerged as a determinant of brain ...
Sana Chaouki, Hinde El Mouhi, Badreddine Elmakhzen, Amina Bouyahyaoui, Mustapha Hida, Karim Ouldim, Laila Bouguenouch   +6 more
doaj   +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