Sirolimus for epileptic seizures associated with focal cortical dysplasia type II
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51505
Abstract: To determine whether sirolimus, a mechanistic target of rapamycin (mTOR) inhibitor, reduces epileptic seizures associated with focal cortical dysplasia (FCD) type II. read more here.
Keywords: associated focal; cortical dysplasia; epileptic seizures; seizures associated ... See more keywords
Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Neurology"
DOI: 10.1002/ana.25187
Abstract: Focal cortical dysplasias (FCDs) are an important cause of drug‐resistant epilepsy. In this work, we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II. read more here.
Keywords: role focal; focal cortical; neurog2 plays; dysregulation neurog2 ... See more keywords
Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Neurology"
DOI: 10.1002/ana.26609
Abstract: Brain somatic mutations in mTOR pathway genes are a major genetic etiology of focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic mutations in the brain by deep sequencing and… read more here.
Keywords: level somatic; focal cortical; cortical dysplasia; low level ... See more keywords
Interictal pattern on scalp electroencephalogram predicts excellent surgical outcome of epilepsy caused by focal cortical dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12587
Abstract: Focal cortical dysplasia (FCD) represents an essential cause of drug‐resistant epilepsy with surgery as an effective treatment option. This study aimed to identify the important predictors of favorable surgical outcomes and the impact of the… read more here.
Keywords: focal cortical; scalp electroencephalogram; cortical dysplasia; epilepsy ... See more keywords
Commentary on “The epileptogenic zone in children with tuberous sclerosis complex is characterized by prominent features of focal cortical dysplasia”
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12598
Abstract: Drugresistant epilepsy remains one of the most challenging and impairing problems facing epilepsy patients. In the large population of patients with drugresistant epilepsy, nonmedical treatments, especially epilepsy surgery, may offer the best hope for a… read more here.
Keywords: epilepsy surgery; surgery; cortical dysplasia; epilepsy ... See more keywords
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12678
Abstract: Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a child with drug and surgery‐resistant focal epilepsy due to FCD type II who developed progressive… read more here.
Keywords: cause; cortical dysplasia; dysplasia; basal ganglia ... See more keywords
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2086
Abstract: Focal cortical dysplasia type 2 (FCD2) is a malformation of cortical development that constitutes a common cause of pediatric focal epilepsy. Germline or somatic variants in the mammalian target of rapamycin (mTOR) signaling pathway genes… read more here.
Keywords: focal cortical; identification genetic; dysplasia type; cortical dysplasia ... See more keywords
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica"
DOI: 10.1007/s00401-019-02061-5
Abstract: Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe pediatric refractory epilepsies subjected to neurosurgery. FCD2 are characterized by neuropathological hallmarks… read more here.
Keywords: focal cortical; fcd2 hme; mmcd fcd1; cortical dysplasia ... See more keywords
Focal cortical atrophy following transient meningeal enhancement in a progressive multiple sclerosis
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04764-0
Abstract: Recent studies identified chronic leptomeningeal enhancement (LME) in late-acquired FLAIR sequences in secondary progressive (SP) multiple sclerosis (MS). These LMEs correlate with focal cortical inflammation and demyelination observed by pathology, which are supposed to drive… read more here.
Keywords: focal cortical; progressive multiple; multiple sclerosis; cortical atrophy ... See more keywords
Elevated Expression of TRPC4 in Cortical Lesions of Focal Cortical Dysplasia II and Tuberous Sclerosis Complex
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-017-0923-z
Abstract: Focal cortical dysplasia type II (FCD II) and tuberous sclerosis complex (TSC) are well-known causes of chronic refractory epilepsy in children. Canonical transient receptor potential channels (TRPCs) are non-selective cation channels that are commonly activated… read more here.
Keywords: focal cortical; tuberous sclerosis; sclerosis complex; cortical dysplasia ... See more keywords
Differential Expression Hallmarks of Interneurons in Different Types of Focal Cortical Dysplasia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-020-01492-0
Abstract: Focal cortical dysplasia (FCD) is the main cause of medically intractable pediatric epilepsy. Previous studies have suggested that alteration of cortical interneurons and abnormal cytoarchitecture have been linked to initiation and development for seizure. However,… read more here.
Keywords: type iib; focal cortical; fcd type; vip ... See more keywords