Results 71 to 80 of about 402,861 (290)

Genetic testing among patients evaluated for epilepsy surgery

open access: yesEpileptic 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   +7 more
wiley   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

open access: yesEpileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron   +6 more
wiley   +1 more source

Parâmetros radiográficos de displasia coxofemoral na raça Rottweiler

open access: yesArquivo Brasileiro de Medicina Veterinária e Zootecnia, 2015
In this study, 139 radiographs of the Rottweiller breed dog, 44 males and 95 females were evaluated. Radiographs were classified by the degree of hip dysplasia, and we measured the angle of inclination, Norberg angle, the cortical index and percentage of
P.C. Genuíno   +3 more
doaj   +1 more source

Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia

open access: yes, 2017
Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-
Vrielynck, Pascal   +11 more
core   +1 more source

Focal Cortical Dysplasia with hippocampal sclerosis

open access: yesAutopsy and Case Reports, 2023
Focal Cortical Dysplasia (FCD) is a group of focal developmental malformations of the cerebral cortex cytoarchitecture. FCD usually manifests as medically intractable epilepsy, especially in young children.
Devendra Jadav   +3 more
doaj  

Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasia

open access: yesRadiology Case Reports, 2017
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal.
Kevin M. Sweet, MS   +2 more
doaj   +1 more source

Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia)

open access: yes, 1996
It is generally accepted that there are two subsets of septo-optic dysplasia (deMorsier's syndrome), one with schizencephaly and the other without schizencephaly.
Sener, RN
core  

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

open access: yesEpileptic 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   +7 more
wiley   +1 more source

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

open access: yes, 2017
Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%–25% of FCD type II (FCDII ...
임재석, 이정호, 이준학
core  

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

open access: yesEpileptic 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   +6 more
wiley   +1 more source

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