Results 161 to 170 of about 101,774 (257)

Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study. [PDF]

open access: yesCerebellum
Matlawska M   +8 more
europepmc   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

open access: yesEpileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh   +10 more
wiley   +1 more source

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

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

Clinical and genetic diagnostic challenges in presumed hereditary ataxia. [PDF]

open access: yesJ Neurol
Faust H   +9 more
europepmc   +1 more source

Unique deficits in place coding across subfields of the hippocampus in a mouse model of temporal lobe epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Memory problems are comorbid with temporal lobe epilepsy (TLE). Animal models of TLE reveal impairments in spatial firing fields of hippocampal place cells, providing a potential neural substrate for memory problems. Each subfield of the hippocampus carries out unique aspects of spatial memory, yet little is known about how ...
Brittney L. Boublil   +4 more
wiley   +1 more source

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

open access: yesEpilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer   +12 more
wiley   +1 more source

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