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1.
This study aimed to refine a dimensional scale for measuring psychosocial adjustment in African youth using item response theory (IRT). A 60‐item scale derived from qualitative data was administered to 667 war‐affected adolescents (55% female). Exploratory factor analysis (EFA) determined the dimensionality of items based on goodness‐of‐fit indices. Items with loadings less than 0.4 were dropped. Confirmatory factor analysis (CFA) was used to confirm the scale's dimensionality found under the EFA. Item discrimination and difficulty were estimated using a graded response model for each subscale using weighted least squares means and variances. Predictive validity was examined through correlations between IRT scores (θ) for each subscale and ratings of functional impairment. All models were assessed using goodness‐of‐fit and comparative fit indices. Fisher's Information curves examined item precision at different underlying ranges of each trait. Original scale items were optimized and reconfigured into an empirically‐robust 41‐item scale, the African Youth Psychosocial Assessment (AYPA). Refined subscales assess internalizing and externalizing problems, prosocial attitudes/behaviors and somatic complaints without medical cause. The AYPA is a refined dimensional assessment of emotional and behavioral problems in African youth with good psychometric properties. Validation studies in other cultures are recommended. Copyright © 2014 John Wiley & Sons, Ltd.  相似文献   

2.
This study evaluated the psychometric properties of the Chinese version of the Social Responsiveness Scale (Chinese SRS). We assessed 1419 grade 1 to grade 8 students from northern Taiwan and 401 clinic-based participants (aged 3–20, male 90.3%). All clinic-based participants were clinically diagnosed with autism spectrum disorders (ASDs), including autistic disorder and Asperger's disorder, according to the DSM-IV diagnostic criteria and confirmed by a parental interview using the Chinese version of the Autism Diagnostic Interview-Revised (ADI-R). All the parents completed the Chinese SRS. Parents of participants with ASD also completed the Chinese version of the Social Communication Questionnaire (Chinese SCQ). Exploratory factor analysis revealed a 4-factor structure which was validated by confirmatory factor analysis with an adequate fit (root mean square error of approximation 0.031, comparative fit index 0.983, adjusted goodness of fit index 0.910, standardized root mean square residual 0.050) after excluding five items with low correlation coefficients. The 4-week test–retest reliability (intraclass correlations 0.751–0.852), internal consistency (Cronbach's alpha 0.944–0.947), and convergent validity with the Chinese SCQ (Pearson correlations 0.609–0.865) demonstrated well-accepted psychometric performance. Participants with ASD reported significantly higher total scores and subscale scores for the four factors (i.e. socio-communication, autism mannerisms, social awareness, and social emotion) compared to those without ASD. Our findings indicate that the Chinese SRS is a reliable and valid instrument for measuring autistic traits in the ethnic Chinese population in Taiwan.  相似文献   

3.
Background: This article studied the factor structure of the Impact of Event Scale‐Revised (IES‐R) in two samples in Peru, i.e., a sample of survivors of a fire (N=174) and a university student sample (N=562). Methods: First, confirmatory factor analysis was used to compare nine different models of posttraumatic stress disorder symptoms as evaluated by the IES‐R in both of the samples separately. The model with the best fit in both samples had four correlated factors, i.e., Intrusion, Avoidance, Hyperarousal and Sleep Disturbance. Second, the degree of factorial invariance of the IES‐R was compared in both the samples using multiple group confirmatory factor analysis. Results and Conclusions: The results showed almost no differences between both samples. Finally, the results supported the internal consistency, as well as the concurrent and convergent validity of the IES‐R in Peru. Depression and Anxiety, 2009. © 2009 Wiley‐Liss, Inc.  相似文献   

4.
Age‐related changes in resting‐state (RS) neural rhythms in typically developing children (TDC) but not children with autism spectrum disorder (ASD) suggest that RS measures may be of clinical use in ASD only for certain ages. The study examined this issue via assessing RS peak alpha frequency (PAF), a measure previous studies, have indicated as abnormal in ASD. RS magnetoencephalographic (MEG) data were obtained from 141 TDC (6.13–17.70 years) and 204 ASD (6.07–17.93 years). A source model with 15 regional sources projected the raw MEG surface data into brain source space. PAF was identified in each participant from the source showing the largest amplitude alpha activity (7‐13 Hz). Given sex differences in PAF in TDC (females > males) and relatively few females in both groups, group comparisons were conducted examining only male TDC (N = 121) and ASD (N = 183). Regressions showed significant group slope differences, with an age‐related increase in PAF in TDC (R2 = 0.32) but not ASD (R2 = 0.01). Analyses examining male children below or above 10‐years‐old (median split) indicated group effects only in the younger TDC (8.90 Hz) and ASD (9.84 Hz; Cohen's d = 1.05). In the older ASD, a higher nonverbal IQ was associated with a higher PAF. In the younger TDC, a faster speed of processing was associated with a higher PAF. PAF as a marker for ASD depends on age, with a RS alpha marker of more interest in younger versus older children with ASD. Associations between PAF and cognitive ability were also found to be age and group specific.  相似文献   

5.
The Strength and Difficulties Questionnaire (SDQ) is a brief screening instrument for assessing emotional and behavioural problems in children and adolescents. This study examined the factor structure and validity of the self‐report original English version of the SDQ and four of its many translations (German, Cypriot Greek, Swedish, and Italian). A total of 2418 adolescents from five European countries (Germany, Cyprus, England, Sweden, Italy), ages 12 to 17 years, participated. The sample was drawn from general (school) populations. In addition to the SDQ, all participants completed the Spence Children's Anxiety Scale (SCAS), a measure of anxiety symptoms. The internal consistency and validity of the SDQ total difficulties were good for most countries. Confirmatory factor analysis showed that both five‐ and three‐factor models provided good fit for the whole sample; however, the three‐factor model fit somewhat better than the five‐factor model. The factor structure differed across countries, with the three‐factor model showing better fit indices in Cyprus, whereas the five‐factor model fitted better in Germany. Fit indices for the UK, Sweden, and Italy were poor for both models. When the reversed items were removed, the goodness‐of‐fit improved significantly for the total sample and in each country. It is therefore recommended that the reversed items be removed or re‐worded in future studies. Copyright © 2012 John Wiley & Sons, Ltd.  相似文献   

6.
Heterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Homozygous mutations in PRRT2 have also been reported in two families with intellectual disability (ID) and seizures. Heterozygous mutations in the genes KCNQ2 and SCN2A cause the two other autosomal dominant seizure disorders of infancy: benign familial neonatal epilepsy and benign familial neonatal‐infantile epilepsy. Mutations in KCNQ2 and SCN2A also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intellectual disability co‐occur. We therefore hypothesized that PRRT2 mutations may also underlie cases of IEE. We examined PRRT2 for heterozygous, compound heterozygous or homozygous mutations to determine their frequency in causing epileptic encephalopathies (EEs). Two hundred twenty patients with EEs with onset by 2 years were phenotyped. An assay for the common PRRT2 c.649‐650insC mutation and high resolution‐melt analysis for mutations in the remaining exons of PRRT2 were performed. Neither the common mutation nor any other pathogenic variants in PRRT2 were detected in the 220 patients. Our findings suggest that mutations in PRRT2 are not a common cause of IEEs.  相似文献   

7.
The parents of 601 children and adolescents, responding to a mail survey, rated their children on the Aberrant Behavior Checklist-Community (ABC-C). Factor analysis of ABC-C ratings revealed a factor structure that was similar to the original ABC but without the fifth factor (Inappropriate Speech). Coefficients of congruence were moderate to large for the four-factor model, and alpha coefficients were moderate to high when the original item assignment was imposed. Confirmatory factor analysis indicated a modest level of fit with the traditional method of scoring the ABC and acceptable fit when the items were coded for occurrence (0 or 1). Analysis of subject variables revealed main effects for gender on one subscale (Hyperactivity), main effects for age on two subscales (Irritability; Hyperactivity), and one main effect for classroom assignment on the Stereotypic Behavior subscale. Normative data for parent ratings were presented by age and gender combined, gender alone, and age alone. With some qualifications, the ABC-C appears to be valid for assessing children in special educational settings, although further research is needed on the ABC's factor structure in this population.  相似文献   

8.
The Obsessive Thoughts Checklist (OTC) differs from several other measures of obsessive-compulsive symptoms in its focus on obsessive thoughts instead of compulsive behaviour. The OTC has been used in several studies in France and abroad and support for the discriminant and convergent validity of the instrument has been gathered. The authors of the OTC recently reported 3 underlying factors in this instrument: a perfectionism/verification factor, a contamination factor and a responsibility factor. In an earlier study of the OTC a 2 factor solution was however suggested. It therefore seems important to further elucidate the factorial structure of this instrument using confirmatory factor analysis. In this study data on the Icelandic translation of the OTC from three samples of Icelandic college students were submitted first to an exploratory and then to a confirmatory factor analysis. The total number of subjects was 614 college students, 254 men and 360 women with a mean age of 24.4 (sd = 5.0). The results of the exploratory factor analysis (PCA) submitted to a varimax rotation are presented in table I. The 3 expected factors were reproduced with few cross-loadings. In the confirmatory factor analysis the fit of three models to the data were evaluated: a 1 factor model, the 2 factor model of Bouvard et al. and the 3 factor model of Bouvard et al.. An initial examination of the data led to logarithmic transformation of 18 items to reduce skewness in their distributions. The data was subsequently subjected to a confirmatory factor analysis to compare the three-factor model with the two-factor and one-factor models for the OTC. The factors for the three- and two-factor models were allowed to correlate freely. The data were analysed using the EQS procedure, and the models tested were covariance structure models. Table II presents the goodness of fit indices for all three models. The results show that none of the three models provide an overall appropriate fit for the data. However, the fit indices for the three-factor model were considerably higher than found for the two or one factor models and the RMSEA index for the three-factor model suggested an acceptable fit for that model. Although the three-factor model suggests the best fit of all three models, the fit indices were still unacceptably low. Further examination of the data revealed a pattern of standardized residuals suggesting that this might in part be attributable to three items from the responsibility factor (items 26, 19 and 15) not being well specified within the model. When the residuals for these items were allowed to correlate, the fit of the model was substantially improved (CFI = 0.85; GFI = 0.87; AGFI = 0.85; RMSEA = 0.062). This indicates that a revision of the responsibility scale might be appropriate. Table III provides the means, standard deviations and the alpha coefficients for the 3 subscales of the OTC as well as for the total scale. In one subsample of the study (sample 1, n = 169) the OTC was administered together with the Padua Inventory-Washington State Revision (PI-WSUR) measuring obsessive-compulsive symptoms, the Penn State Worry Questionnaire (PSWQ) and the Community Epidemiological Scale-Depression (CES-D) measuring depression. In order to investigate the convergent validity and divergent of the OTC its correlation with the PI-WSUR was compared with its correlations with PSWQ and CES-D. These correlations shown in table IV support the convergent and divergent validity of the OTC. In another subsample of the study (sample 2, n = 296) the OTC was administered together with the Maudsley Obsessive Compulsive Inventory (MOCI). For samples 1 and 2, zero order and partial correlations were calculated between the subscales of the OTC and the subscales of the other instruments. As shown in table V the strongest correlations between the checking/perfectionism and the contamination subscales of the OTC were with corresponding subscales of the PI-WSUR and the MOCI. It is concluded that the factorial, the convergent and the divergent validities of the Icelandic translation of the OTC are supported in a student population even though the somewhat suboptimal fit of the three-factor model may indicate that a revision of the responsibility factor might be in order. This should however be further studied in a clinical population.  相似文献   

9.
Aim: Resilience refers to positive adaption in the face of stress or trauma. Assessing resilience is crucial in trauma‐related research and practice. The 10‐item Connor–Davidson Resilience Scale (CD‐RISC) has been demonstrated to be a valid and reliable tool to achieve this goal. This study was designed to examine the psychometric properties of the 10‐item CD‐RISC in a sample of Chinese earthquake victims. Methods: A total of 341 participants (185 women, 156 men) aged 20–63 years were recruited from a psychological relief program supported by the Institute of Psychology, Chinese Academy of Sciences following the ‘Wenchuan’ earthquake. The participants were given the 10‐item CD‐RISC and the 17‐item post‐traumatic stress disorder (PTSD) subscale of the Los Angeles Symptom Checklist (LASC) 4 months after the earthquake. Results: The results of exploratory factor analysis indicated that a single‐factor model consistent with the original design of the 10‐item CD‐RISC was support. The scale was also demonstrated to have good internal consistency (Cronbach's alpha = 0.91) and test–retest reliability (r = 0.90 for a two‐week interval). Scores on the scale could reflect different levels of resilience in populations that are thought to be differentiated (probable PTSD vs healthy controls, t(339) = ?7.60, P < 0.01, Cohen's d = 0.84). Moreover, the total resilience scores were significantly negatively correlated with scores on total PTSD scale and its three subscales for all participants. Conclusion: The Chinese version of the 10‐item CD‐RISC has excellent psychometric properties, and is applicable for Chinese people.  相似文献   

10.
Aims: The aim of the present study was to develop a tool, the Psychiatric Nurse Job Stressor Scale (PNJSS), for measuring the stress of psychiatric nurses, and to evaluate the reliability and validity of the PNJSS. Methods: A total of 302 psychiatric nurses completed all the questions in an early version of the PNJSS, which was composed of 63 items and is based on past literature of psychiatric nurses' stress. Results: A total of 22 items from four factors, ‘Psychiatric Nursing Ability’, ‘Attitude of Patients’, ‘Attitude Toward Nursing’ and ‘Communication’, were extracted in exploratory factor analysis. With regard to scale reliability, the item–scale correlation coefficient was r = 0.265–0.570 (P < 0.01), the Cronbach alpha coefficient was 0.675–0.869, and the test–retest correlation coefficient was r = 0.439–0.771 (P < 0.01). With regard to scale validity, the convergent validity of the ‘job stressor’ scale was r = 0.172–0.420 (P < 0.01), and the predictive validity of the ‘job reaction’ scale was r = 0.201–0.453 (P < 0.01). The compatibility of the factor model to the data was 1.750 (χ2/d.f., 343.189/196, P < 0.01), the goodness of fit index was 0.910, the adjusted goodness of fit index was 0.883, the comparative fit index was 0.924, and the root mean square error of approximation was 0.050. Conclusions: The PNJSS has sufficient reliability and validity as a four‐factor structure containing 22 items, and is valid as a tool for evaluating psychiatric nurse job stressors.  相似文献   

11.
The Beck Depression Inventory (BDI) is perhaps the most commonly used screening instrument for depression in the general population. We examined the psychometric properties of a Persian-language version of the second edition of this instrument (BDI-II) [Beck et al., 1996] in an Iranian college-student sample. In a sample of 125 student volunteers from two Iranian universities, we compared mean item scores on the BDI-II-Persian with those on the English-language version administered to North American college students, and assessed internal consistency and test-retest reliability of the BDI-II-Persian and its concurrent validity against a measure of negative automatic thoughts in depression, the Automatic Thoughts Questionnaire [Hollon and Kendall, 1980]. We also examined the factor structure of the BDI-II-Persian through comparing the fit of various proposed models to the data using confirmatory factor analysis. The BDI-II-Persian had high internal consistency (Cronbach's alpha=0.87) and acceptable test-retest reliability (r=0.74). The instrument correlated strongly with the Automatic Thoughts Questionnaire. In factor analysis, models with strongly correlated affective-cognitive and somatic-vegetative factors provided a better fit than models with one global factor. These data support the reliability and concurrent validity of the BDI-II-Persian as a measure of depressive symptoms in nonclinical samples.  相似文献   

12.
This study explored the topological characteristics of brain white matter structural networks in patients with Paroxysmal Kinesigenic Dyskinesia (PKD), and the potential influence of the brain network stability gene PRRT2 on the structural connectome in PKD. Thirty‐five PKD patients with PRRT2 mutations (PKD‐M), 43 PKD patients without PRRT2 mutations (PKD‐N), and 40 demographically‐matched healthy control (HC) subjects underwent diffusion tensor imaging. Graph theory and network‐based statistic (NBS) approaches were performed; the topological properties of the white matter structural connectome were compared across the groups, and their relationships with the clinical variables were assessed. Both disease groups PKD‐M and PKD‐N showed lower local efficiency (implying decreased segregation ability) compared to the HC group; PKD‐M had longer characteristic path length and lower global efficiency (implying decreased integration ability) compared to PKD‐N and HC, independently of the potential effects of medication. Both PKD‐M and PKD‐N had decreased nodal characteristics in the left thalamus and left inferior frontal gyrus, the alterations being more pronounced in PKD‐M patients, who also showed abnormalities in the left fusiform and bilateral middle temporal gyrus. In the connectivity characteristics assessed by NBS, the alterations were more pronounced in the PKD‐M group versus HC than in PKD‐N versus HC. As well as the white matter alterations in the basal ganglia‐thalamo‐cortical circuit related to PKD with or without PRRT2 mutations, findings in the PKD‐M group of weaker small‐worldness and more pronounced regional disturbance show the adverse effects of PRRT2 gene mutations on brain structural connectome.  相似文献   

13.
The current study attempted a cross-validation of specific phobia domains in a community-based sample of African American adults based on a previous model of phobia domains in a college student sample of African Americans. Subjects were 100 African American community-dwelling adults who completed the Fear Survey Schedule-Second Edition (FSS-II). Domains of fear were created using a similar procedure as the original, college sample of African American adults. A model including all of the phobia domains from the FSS-II was initially tested and resulted in poor model fit. Cross-validation was subsequently attempted through examining the original factor pattern of specific phobia domains from the college sample (Chapman, Kertz, Zurlage, & Woodruff-Borden, 2008). Data from the current, community based sample of African American adults provided poor fit to this model. The trimmed model for the current sample included the animal and social anxiety factors as in the original model. The natural environment-type specific phobia factor did not provide adequate fit for the community-based sample of African Americans. Results indicated that although different factor loading patterns of fear may exist among community-based African Americans as compared to African American college students, both animal and social fears are nearly identical in both groups, indicating a possible cultural homogeneity for phobias in African Americans. Potential explanations of these findings and future directions are discussed.  相似文献   

14.
Proline-rich transmembrane protein 2 gene (PRRT2) mutations are reported to cause common paroxysmal neurological disorders and show a remarkable pleiotropy. Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common epilepsy syndrome in childhood. It is placed among the idiopathic localization related epilepsies. Recently, it was reported that a girl with a PRRT2 mutation c.649_650insC developed infantile focal epilepsy with bilateral spikes which resembled the rolandic spikes. Hereby we performed a comprehensive genetic mutation screening of PRRT2 gene in a cohort of 53 sporadic BECTS patients. None of the 53 sporadic BECTS patients and other 250 controls carried mutations including c.649_650insC in PRRT2. Our data indicated that the PRRT2 mutations might most likely not be associated with BECTS in Chinese mainland population.  相似文献   

15.
The Nurse Attitude Scale (NAS) measures nurses' Expressed Emotion. A short form of the NAS was developed and its reliability and validity examined. After performing factor analysis using 1252 samples, three factors were extracted. Cronbach's α for individual subscales was 0.852 for Hostility, 0.846 for Criticism and 0.645 for Positive Remarks. There was a significant correlation between individual subscales in the NAS short form and corresponding subscale in the Maslach Burnout Inventory ( P  < 0.001). The NAS short form seems to have acceptable reliability and validity.  相似文献   

16.
This paper reports on the Algase wandering scale (AWS), a 28-item questionnaire, based on five dimensions of wandering. With factor analysis, an eight-factor solution explained nearly 70 percent of the variance in ratings for 151 long-term care subjects and confirmed three of the structuring dimensions. Reliability of the AWS was examined for internal consistency and for inter-rater reliability. The AWS had an alpha of .86; subscale alphas ranged between .88 (persistent walking) and .57 (routinized walking). Inter-rater reliabilities, estimated through cross-rater comparisons of the AWS and subscales with a four-point judgement of wandering status, were moderately strong and no significant differences existed between two sets of raters. Validity of the AWS and its subscales was supported by examining their ability to differentiate wanderers and nonwanderers, by positive correlation with measures of cognitive impairment and with multiple parameters of observed wandering, and by negative or no correlations with nonwandering locomotion. Although the AWS may be a useful measure of wandering in long-term care settings, validation of its factor structure and evaluation in cross-cultural samples is needed.  相似文献   

17.
We investigated factors contributing to teachers' attitudes toward students with epilepsy. Data were collected from 604 teachers in Korea. The questionnaire included the Scale of Attitudes Toward Persons with Epilepsy (ATPE) and a demographic and teaching experience survey. In stepwise linear regression analysis, ATPE Knowledge scores (P<0.001) and prior experience teaching a student with epilepsy (P=0.001) were identified as significant factors for ATPE Attitude scores. The ATPE Knowledge scores accounted for 50.1% of the variance in the Attitude scores, and experience teaching a student with epilepsy accounted only for 1.0%. Our finding that teachers' knowledge is the most important factor influencing teacher's attitudes toward epilepsy indicates that teachers should be provided with information about epilepsy universally, across geographic settings, educational levels, and experience levels.  相似文献   

18.
Aim: To investigate the factor structure underlying the Camberwell Assessment of Need–Patient Version (CANSAS‐P) items in schizophrenia and schizoaffective disorder. Method: Factor, correlation and regression analyses were performed for dimensions of CANSAS‐P, illness, personality and quality of life (QOL) related variables in 95 stabilized patients with chronic schizophrenia and schizoaffective disorder. Results: Exploratory factor analysis revealed a four‐factor model that explains 50.4% of the total variance of the 20 CANSAS‐P items. The factors ‘Social disability’, ‘Information processing disability’, ‘Emotional processing disability’, and ‘Coping disability’ showed acceptable internal consistency (Cronbach's α coefficient 0.67–0.77). The CANSAS‐P subscale scores positively correlated with severity of symptoms, distress (r ranged from 0.34 to 0.45), while negatively associated with general functioning (r = ?0.34), friend (r = ?0.46) and family support (r = ?0.41), satisfaction with medicine (r = ?0.35), general activities (r = ?0.40), and general QOL (r = ?0.35) (all P < 0.001). Severity of illness, symptoms, emotional distress and emotion‐oriented coping were positive predictors; friend support, QOL general activities, life satisfaction and satisfaction with medicine were negative predictors of the CANSAS‐P subscale scores. The effect size (f2) for these predictors ranged from medium to quite large (f2 = 0.28–1.13), and they explain from 23% to 46% of the variability in CANSAS‐P subscales. Conclusions: A four‐factor structure mode, including social and cognitive functioning, emotion responsivity and coping with daily challenges, appears to fit CANSAS‐P items. These subscales may contribute to research and improve treatment of psychiatric patients.  相似文献   

19.
Premenstrual depression predicts future major depressive disorder   总被引:2,自引:0,他引:2  
To assess the power of premenstrual changes as a risk factor for future major depressive disorder (MDD), we conducted a follow-up study of 36 women who had volunteered for menstrual cycle studies. Scores on the depressive subscale of the Premenstrual Assessment Form (PAF) at initial evaluation were found to be significantly correlated (r = 0.35) with the occurrence of MDD during the follow-up period. Moreover, multiple regression analysis indicated that the PAF scores had predictive value above and beyond 2 known risk factors for MDD, family history of depression and prior personal history of depression. The Premenstrual Change Index, a score derived from prospective daily self-ratings of severity of dysphoric symptoms, was also correlated with interval MDD, but did not enhance the predictive power of the PAF score. We conclude that the assessment of premenstrual depression has validity in identifying women at risk for future MDD, even when a retrospective instrument, PAF, is utilized for such assessment.  相似文献   

20.
In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We conducted a review of the literature on PRRT2 mutation‐associated disorders. Our objectives were to describe the wide clinical spectrum associated with PRRT2 mutations, and to present the current hypotheses on the underlying pathophysiology. PRRT2 mutations are associated with a wide range of clinical syndromes: the various paroxysmal dyskinesias, infantile seizures, paroxysmal torticollis, migraine, hemiplegic migraine, episodic ataxia and even intellectual disability in the homozygous state. The PRRT2 protein, through its interaction with SNAP‐25, could play a role in synaptic regulation in the cortex and the basal ganglia. The pathogenesis may be caused by PRRT2 loss of function, which may induce synaptic deregulation and neuronal hyperexcitability. However, this does not explain the phenotypic variability, which is likely modulated by environmental factors, modifier genes or age‐dependent expression. The clinical spectrum of PRRT2 mutations has expanded among paroxysmal disorders and beyond. Unraveling the molecular pathways linking the genetic defect to its clinical expression will be crucial for the diagnosis and treatment of these disorders.  相似文献   

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