Electron-induced photon emission above the quantum cutoff due to time-energy uncertainty.

The light emission from a tunneling junction induced by tunneling electrons has been studied around the cutoff at hν=eV. The emitted photons are found to exceed the excitation energy provided by the energy of the tunneling electrons. The experiments have been performed by a low- temperature scanning tunneling microscope at 80 K for an Ag(111) surface and an Ag-covered PtIr tip.

Medical students' perceptions of their learning environment during a mandatory research project.

Objectives: To explore medical students´ perceptions of their learning environment during a mandatory 20-week scientific research project.

Methods: This cross-sectional study was conducted between 2011 and 2013. A total of 651 medical students were asked to fill in the Clinical Learning Environment, Supervision, and Nurse Teacher (CLES+T) questionnaire, and 439 (mean age 26 years, range 21-40, 60% females) returned the questionnaire, which corresponds to a response rate of 67%.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing-based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this study we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies, for example, due to STXBP1 variants.

Electrometer with sub-attoampere current load.

By cooling a conventional junction field-effect transistor below 150 K, a simple and versatile electrometer with extremely high impedance can be realized. At operating condition, the leakage current to the gate amounts to a few hundredths of an attoampere. The electrometer can be used from DC up to a frequency of 10 kHz.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients.

Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations.

Design, Setting, And Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1.

encephalopathy: A new disease of vesicle fission.

Objective: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.

Methods: We reviewed phenotypic data of 21 patients (7 previously published) with mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.

Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.

We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K channel properties.

Objective: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.

Methods: We analyzed clinical, electroclinical, and neuroimaging data for 20 patients with MEAK due to recurrent KCNC1 p.R320H mutation.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients.

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Background: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of encephalopathy and explored potential prospects of personalised medicine.

Methods: Data of 48 individuals with de novo variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care.

Medical students' research productivity and career preferences; a 2-year prospective follow-up study.

Background: Linking undergraduate medical education to scientific research is necessary for the quality of future health care, and students´ individual research projects are one way to do so. Assessment of the impact of such projects is of interest for both educational and research-oriented segments of medical schools. Here, we examined the scholarly products and medical students' career preferences 2 years after a mandatory research project course.

Medical students' experiences of their own professional development during three clinical terms: a prospective follow-up study.

Background: A modern competency-based medical education is well implemented globally, but less is known about how the included learning activities contribute to medical students' professional development. The aim of this study was to explore Swedish medical students' perceptions of the offered learning activities and their experiences of how these activities were connected to their professional development as defined by the CanMEDS framework.

Methods: A prospective mixed method questionnaire study during three terms (internal medicine, scientific project, and surgery) in which data were collected by using contextual activity sampling system, i.

Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.

Objective: To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment.

Methods: Retrospective study of 19 patients (7 females; age: 1-38 years; mean 10.1 years) with epilepsy and GRIN2A alteration.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Objective: To examine the role of mutations in GABRB3 encoding the β subunit of the GABA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.

Methods: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs.

Results: We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands from multiplex families.

Long-Term Follow-Up of Patients with Spasmodic Dysphonia and Improved Voice despite Discontinuation of Treatment.

Objective: To evaluate voice function in patients with adductor spasmodic dysphonia (AdSD) who discontinued botulinum toxin (BTX) treatment because they felt that their voice had improved sufficiently.

Patients And Methods: Twenty-eight patients quit treatment in 2004, of whom 20 fulfilled the inclusion criteria for the study, with 3 subsequently excluded because of return of symptoms, leaving 17 patients (11 males, 6 females) included in this follow-up study. A questionnaire concerning current voice function and the Voice Handicap Index were completed.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Purpose: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined.

Methods: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations.

Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.

Objective: To assess the prevalence of somatic mutations in focal cortical dysplasia (FCD) and of germline mutations in a broad range of epilepsies.

Methods: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies.

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Aicardi syndrome (AS) is a well-characterized neurodevelopmental disorder with an unknown etiology. In this study, we performed whole-exome sequencing in 11 female patients with the diagnosis of AS, in order to identify the disease-causing gene. In particular, we focused on detecting variants in the X chromosome, including the analysis of variants with a low number of sequencing reads, in case of somatic mosaicism.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood.

Spectral Skyline Separation: Extended Landmark Databases and Panoramic Imaging.

Evidence from behavioral experiments suggests that insects use the skyline as a cue for visual navigation. However, changes of lighting conditions, over hours, days or possibly seasons, significantly affect the appearance of the sky and ground objects. One possible solution to this problem is to extract the "skyline" by an illumination-invariant classification of the environment into two classes, ground objects and sky.