UNC13B variants associated with partial epilepsy with favourable outcome. [PDF]
Brain, 2021 The unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain—predominantly in the cerebral cortex—and plays an essential role in synaptic vesicle priming and fusion ...
Wang J +22 more
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HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism [PDF]
Clinical and Translational Medicine, 2023 Background HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X‐linked cobalamin metabolism disorders and mental retardation‐3.
Na He +28 more
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SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation [PDF]
Frontiers in Molecular Neuroscience, 2023 BackgroundRecessive SZT2 variants are reported to be associated with developmental and epileptic encephalopathy 18 (DEE-18) and occasionally neurodevelopment abnormalities (NDD) without seizures. This study aims to explore the phenotypic spectrum of SZT2
Sheng Luo +15 more
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Benign Partial Epilepsy in Infancy [PDF]
Pediatric Neurology Briefs, 1996 The frequency of occurrence of benign partial epilepsy in infancy (BPEI) in a first line general hospital was determined among 75 patients presenting with epilepsy in the first 2 years of age and evaluated between 1987 and 1993 at the Departments of ...
J Gordon Millichap
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Disrupted functional brain connectivity in partial epilepsy: a resting-state fMRI study.
PLoS ONE, 2011 Examining the spontaneous activity to understand the neural mechanism of brain disorder is a focus in recent resting-state fMRI. In the current study, to investigate the alteration of brain functional connectivity in partial epilepsy in a systematical ...
Cheng Luo +10 more
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Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases [PDF]
, 2004 The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F ...
Francesca Bisulli +13 more
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Epilepsia, 2017 The International League Against Epilepsy (ILAE) presents a revised operational classification of seizure types. The purpose of such a revision is to recognize that some seizure types can have either a focal or generalized onset, to allow classification ...
Robert S Fisher +2 more
exaly +2 more sources
Lamotrigine add-on for drug-resistant partial epilepsy. [PDF]
Cochrane Database Syst Rev, 2016 Ramaratnam S, Panebianco M, Marson AG.
europepmc +2 more sources
Oxcarbazepine add‐on for drug‐resistant partial epilepsy [PDF]
Cochrane Database Syst Rev, 2016 Atim‐Oluk M, Jackson C, Marson A.
europepmc +2 more sources
Pregabalin add-on for drug-resistant partial epilepsy
Cochrane Database of Systematic Reviews, 2014 Jennifer Pulman +2 more
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