Clinical Neurophysiology Practice最新文献

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Spinal lumbar multimodal neurophysiological monitoring in a patient with deep brain Stimulator: A case report 对一名使用脑深部刺激器的患者进行脊髓腰椎多模态神经电生理监测:病例报告
IF 2
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.10.003
Daniel San-juan , Rafael Diaz-Martinez , Victor Alcocer-Barradas , Luis Alberto Ortega-Porcayo , Marcela Amparo Osuna-Zazueta , Maria Fernanda Tejada-Pineda
{"title":"Spinal lumbar multimodal neurophysiological monitoring in a patient with deep brain Stimulator: A case report","authors":"Daniel San-juan ,&nbsp;Rafael Diaz-Martinez ,&nbsp;Victor Alcocer-Barradas ,&nbsp;Luis Alberto Ortega-Porcayo ,&nbsp;Marcela Amparo Osuna-Zazueta ,&nbsp;Maria Fernanda Tejada-Pineda","doi":"10.1016/j.cnp.2024.10.003","DOIUrl":"10.1016/j.cnp.2024.10.003","url":null,"abstract":"<div><div>Intraoperative neurophysiological monitoring (IONM) is a highly valuable tool in spinal surgery. It allows for real-time evaluation of nervous system function and alerts the surgeon to any warning signs. Among the various techniques used are motor evoked potentials (MEPs) through transcranial electrical stimulation, which involve applying an electrical stimulus to the scalp in the primary motor cortex region and recording it in the corresponding muscles of the corticospinal tract. There are relative contraindications for this technique, such as in patients who have an implantable device. There is no consensus on how to perform this technique in patients with a deep brain stimulator.</div><div>We present the case of a 61-year-old patient with Parkinson’s disease and a deep brain stimulator (DBS), and who underwent spinal surgery for lumbar discopathy. IONM was performed during the procedure using MEPs, necessitating the deactivation of the DBS to protect its function. Upon completion of the surgical procedure, the device was reactivated, confirming its proper function. We demonstrate that this technique can be safe for these patients, weighing the potential risks and benefits. However, it will be necessary to develop specific guidelines for performing these techniques in the future.</div></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 261-265"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142571621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A 1-month ketogenic diet in patients with migraine gives a clinical beneficial effect associated with increased latency of somatosensory thalamo-cortical activity 对偏头痛患者进行为期 1 个月的生酮饮食可产生与躯体感觉丘脑皮层活动潜伏期延长相关的临床益处
IF 2
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.11.002
Chiara Abagnale , Gabriele Sebastianelli , Francesco Casillo , Antonio Di Renzo , Vincenzo Parisi , Ettore Cioffi , Mariano Serrao , Jean Schoenen , Gianluca Coppola , Cherubino Di Lorenzo
{"title":"A 1-month ketogenic diet in patients with migraine gives a clinical beneficial effect associated with increased latency of somatosensory thalamo-cortical activity","authors":"Chiara Abagnale ,&nbsp;Gabriele Sebastianelli ,&nbsp;Francesco Casillo ,&nbsp;Antonio Di Renzo ,&nbsp;Vincenzo Parisi ,&nbsp;Ettore Cioffi ,&nbsp;Mariano Serrao ,&nbsp;Jean Schoenen ,&nbsp;Gianluca Coppola ,&nbsp;Cherubino Di Lorenzo","doi":"10.1016/j.cnp.2024.11.002","DOIUrl":"10.1016/j.cnp.2024.11.002","url":null,"abstract":"<div><h3>Objective</h3><div>Since the habituation deficit of evoked potentials could be related to abnormal thalamocortical drive, we searched for a modulatory effect of ketogenic diet (KD) on somatosensory-evoked thalamo-cortical activity. KD is effective in preventing migraine. Previous studies showed that KD normalises habituation of somatosensory and visual cortical evoked responses in parallel with a decrease in of migraine attack frequency.</div></div><div><h3>Methods</h3><div>We electrically stimulated the median nerve at the wrist to record somatosensory high-frequency oscillations (HFOs) in twenty patients with episodic migraine with and without aura before and after one month of normo- (n = 9) or hypocaloric KD (n = 11). For pre-synaptic thalamocortical and post-synaptic cortical HFOs, we measured the latency of the negative oscillatory maximum, the intra-burst frequency, the number of negative peaks, and the maximum peak-to-peak amplitude.</div></div><div><h3>Results</h3><div>In the total group of patients, the one-month KD significantly increased the latency of the negative oscillatory maximum in pre-synaptic, i.e. thalamocortical activity (t = 2.70, p = 0.015) and in post-synaptic HFOs, i.e. cortical activity (t = 3.08, p = 0.006). This effect could be attributed to hypo-caloric KD, as it was not found after normo-caloric KD. Other HFO parameters, such as amplitude, duration, or number of oscillations, were not affected.</div></div><div><h3>Conclusions</h3><div>A 1-month hypo-caloric KD is able to delay the propagation of neuronal activity through the thalamo-cortical network. This effect does not seem to be correlated with the therapeutic efficacy of KD, but rather to low-calorie intake.</div></div><div><h3>Significance</h3><div>Our results imply that consuming a restricted amount of calories could alter the balance between central excitation and inhibition in migraine.</div></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 292-298"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142698312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Directional deep brain stimulation of the centromedian thalamic nucleus reduces DBS-induced ataxia and dysarthria in Lennox-Gastaut Syndrome: A single case study 对丘脑中央核进行定向深部脑刺激可减轻 DBS 引起的伦诺克斯-加斯塔特综合征共济失调和构音障碍:单例研究
IF 2
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.08.001
Stephan Neidhart , Oona Kohnen , Lennart Stieglitz , Lukas Imbach
{"title":"Directional deep brain stimulation of the centromedian thalamic nucleus reduces DBS-induced ataxia and dysarthria in Lennox-Gastaut Syndrome: A single case study","authors":"Stephan Neidhart ,&nbsp;Oona Kohnen ,&nbsp;Lennart Stieglitz ,&nbsp;Lukas Imbach","doi":"10.1016/j.cnp.2024.08.001","DOIUrl":"10.1016/j.cnp.2024.08.001","url":null,"abstract":"<div><h3>Background</h3><p>We present a case of a 46-year-old man with Lennox-Gastaut syndrome and drug-resistant epilepsy. An adjunctive neurostimulation therapy strategy was implemented involving bilateral deep brain stimulation (DBS) of the centromedian thalamic nucleus (CMT).</p></div><div><h3>Methods</h3><p>Robotically assisted implantation of bilateral DBS directional lead system with 8 contacts in the CMT was performed. The clinical course was assessed in repeated in-patient follow-ups.</p></div><div><h3>Results</h3><p>Initial DBS stimulation resulted in progressive ataxia and dysarthria significantly beyond the level seen before surgery. Deactivation of DBS coincided with improvement of dysarthria. A DBS stimulation paradigm with reduction of lateral and superior stimulation resulted in improvement and eventually complete resolution of the stimulation side effect.</p></div><div><h3>Discussion</h3><p>This case suggests that stimulation-induced dysarthria in DBS can be improved by targeted reduction of lateral and/or superior thalamic stimulation. When dysarthria and ataxia occur during DBS, directed stimulation to medial thalamic structures and more inferior electrode contacts offers a promising strategy to reduce side effects while maintaining positive effects.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 233-235"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X24000222/pdfft?md5=be5e66cca745f2972659627bfc20c150&pid=1-s2.0-S2467981X24000222-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142097607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Visualization of radial nerve activity at the upper arm using magnetoneurography 利用磁神经成像技术观察上臂桡神经活动
IF 2
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.11.001
Takeyasu Toyama , Muneharu Ando , Masaaki Paku , Shinji Sato , Yusuke Yamamoto , Shinichirou Taniguchi , Nobuo Kohara , Takanori Saito
{"title":"Visualization of radial nerve activity at the upper arm using magnetoneurography","authors":"Takeyasu Toyama ,&nbsp;Muneharu Ando ,&nbsp;Masaaki Paku ,&nbsp;Shinji Sato ,&nbsp;Yusuke Yamamoto ,&nbsp;Shinichirou Taniguchi ,&nbsp;Nobuo Kohara ,&nbsp;Takanori Saito","doi":"10.1016/j.cnp.2024.11.001","DOIUrl":"10.1016/j.cnp.2024.11.001","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the function of the radial nerve in the upper arm using Magnetoneurography (MNG).</div></div><div><h3>Methods</h3><div>Eight asymptomatic male volunteers (age 25–63 years) and one 67-year-old female patient with radial nerve palsy were included. The radial nerve was electrically stimulated in the right wrist, and the evoked magnetic field was recorded using a 132-channel bio-magnetometer system with a superconducting quantum interference device positioned below the upper arm. The measurements were divided into distal and proximal sessions because of the extensive range of the nerve.</div></div><div><h3>Results</h3><div>MNG recorded the radial nerve’s evoked magnetic field in all cases, and the neural activity of the radial nerve at the upper arm was visualized using reconstructed currents. The mean conduction velocity calculated from the peak latency of the inward currents was 43.9 m/s for distal measurements and 57.9 m/s for proximal measurements. A 67-year-old female patient with radial nerve palsy had a disappearance of the reconstructed inward current and conduction disturbance of the axonal current, facilitating the identification of the lesion site.</div></div><div><h3>Conclusions</h3><div>MNG allowed visualization of the radial nerve activity in the upper arm and facilitated the identification of the lesion site in a patient with radial nerve palsy.</div></div><div><h3>Significance</h3><div>This method could be a useful diagnostic tool for patients with radial nerve palsy.</div></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 283-291"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142698310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The value of ultrasound-guidance of nerves and muscles for patient tolerance and parameters electrodiagnostic studies 超声引导神经和肌肉对患者耐受性和电诊断研究参数的价值
IF 1.7
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.01.003
Marie Laure Inghilleri , Sandrine Alonso , Hélène Moron , Hector Ruiz , Sophie Bastide , Sarah Coudray
{"title":"The value of ultrasound-guidance of nerves and muscles for patient tolerance and parameters electrodiagnostic studies","authors":"Marie Laure Inghilleri ,&nbsp;Sandrine Alonso ,&nbsp;Hélène Moron ,&nbsp;Hector Ruiz ,&nbsp;Sophie Bastide ,&nbsp;Sarah Coudray","doi":"10.1016/j.cnp.2024.01.003","DOIUrl":"10.1016/j.cnp.2024.01.003","url":null,"abstract":"<div><h3>Objective</h3><p>To assess impact of ultrasound guidance (USG) on patient’s perception of nerve conduction studies (NCS).</p></div><div><h3>Methods</h3><p>In this single-center, randomized, sham-controlled, parallel, single-blind trial, we evaluated ultrasound (US) in identifying NCS stimulation site. Consecutive adults (18–80 old) without neuropathy referred for NCS were electronically randomized 1:1 to USG or Sham US. The primary outcome was sensory supramaximal intensity (SSMI) for each site/nerve; motor supramaximal intensity (MSMI), amplitudes, number of non-routine muscle punctured, Visual Analogue Scale (VAS), satisfaction were secondary outcomes.</p></div><div><h3>Results</h3><p>290 participants were randomized, with 145 in the USG and 144 Sham US groups, respectively. No difference in SSMI, CMAP or SNAP, VAS, satisfaction was recorded. With USG, the median at the elbow and fibular MMSI were lower (p = 0.04; p = 0.02). With normal NCS or overweight and obese subgroups patients had lower median SSMI (p = 0.05/ p = 0.02), higher median and sural SNAP with normal NCS (p = 0.04; p = 0.007) and the sural SNAP for the expert US subgroup (p = 0.02).</p></div><div><h3>Conclusions</h3><p>USG is useful for nerves, that are anatomically variable or in obesity. The sural SNAP gain with US in the normal NCS subgroup could facilitate routine NCS.</p></div><div><h3>Significance</h3><p>In standard NCS the USG does not modify the patient’s tolerance.</p><p><strong>Trial Registration:</strong> clinicaltrials.gov (NCT03868189).</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 78-84"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X24000064/pdfft?md5=b429328969813cf5ba4ede5768daa0d1&pid=1-s2.0-S2467981X24000064-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139637403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Пepeвoд и aдaптaция для pyccкoгo языкa пepecмoтpeннoгo глoccapия тepминoв, нaибoлee чacтo иcпoльзyeмыx в клиничecкoй элeктpoэнцeфaлoгpaфии, и oбнoвлённoгo пpeдлoжeния пo фopмe зaключeния ЭЭГ (IFCN, 2017 г.) 为俄语翻译和改编了临床脑电图最常用术语的修订版词汇表和脑电图报告表的更新提案(IFCN,2017 年)。
IF 1.7
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.01.004
Mikhail Sinkin , Nadezhda Kvaskova , Vasily Nogovitsyn , Alexey Troitsky , Irina Ivanova , Alexandra Belyakova-Bodina , Amayak Broutian
{"title":"Пepeвoд и aдaптaция для pyccкoгo языкa пepecмoтpeннoгo глoccapия тepминoв, нaибoлee чacтo иcпoльзyeмыx в клиничecкoй элeктpoэнцeфaлoгpaфии, и oбнoвлённoгo пpeдлoжeния пo фopмe зaключeния ЭЭГ (IFCN, 2017 г.)","authors":"Mikhail Sinkin ,&nbsp;Nadezhda Kvaskova ,&nbsp;Vasily Nogovitsyn ,&nbsp;Alexey Troitsky ,&nbsp;Irina Ivanova ,&nbsp;Alexandra Belyakova-Bodina ,&nbsp;Amayak Broutian","doi":"10.1016/j.cnp.2024.01.004","DOIUrl":"10.1016/j.cnp.2024.01.004","url":null,"abstract":"","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 138-161"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X24000076/pdfft?md5=6770f16b4d4b1ac193d5b3645e4ad0e3&pid=1-s2.0-S2467981X24000076-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139877901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Compound muscle action potential of whole-forearm flexors: A clinical biomarker for inclusion body myositis 全臂屈肌的复合肌肉动作电位:包涵体肌炎的临床生物标志物
IF 1.7
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.03.003
Tomoo Mano , Naohiko Iguchi , Naoki Iwasa , Nanami Yamada , Kazuma Sugie
{"title":"Compound muscle action potential of whole-forearm flexors: A clinical biomarker for inclusion body myositis","authors":"Tomoo Mano ,&nbsp;Naohiko Iguchi ,&nbsp;Naoki Iwasa ,&nbsp;Nanami Yamada ,&nbsp;Kazuma Sugie","doi":"10.1016/j.cnp.2024.03.003","DOIUrl":"https://doi.org/10.1016/j.cnp.2024.03.003","url":null,"abstract":"<div><h3>Objective</h3><p>This study aimed to investigate the potential of whole-forearm flexor muscle (WFFM) compound muscle action potential (CMAP) as a quantitative biomarker for inclusion body myositis (IBM) pathology.</p></div><div><h3>Methods</h3><p>We prospectively enrolled 14 consecutive patients (10 men and 4 women) diagnosed with IBM based on muscle biopsies. We evaluated the baseline-to-peak amplitude of the WFFM CMAP and other quantitative parameters, including grip and pinch strength, Inclusion Body Myositis Functional Rating Scale (IBMFRS) score, and other routine muscle CMAP amplitudes.</p></div><div><h3>Results</h3><p>The WFFM CMAP was strongly correlated with disease duration and the IBMFRS score. The WFFM CMAP on the more affected side was lower than that on the less affected side. Furthermore, grip power was strongly correlated with the WFFM CMAP, whereas lateral pinch strength was strongly correlated with the WFFM and first dorsal interosseous CMAPs. The 3-point pinch strength was also correlated with the WFFM CMAP.</p></div><div><h3>Conclusions</h3><p>This study demonstrates that the WFFM CMAP may serve as a biomarker of severity in IBM.</p></div><div><h3>Significance</h3><p>Identification of this biomarker can support drug development, diagnosis, prognosis, and treatment options for patients with IBM.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 162-167"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X24000143/pdfft?md5=c5ee443e624833861e41f2e57e89ec24&pid=1-s2.0-S2467981X24000143-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140651037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Surface recording of the H-reflex from a relaxed flexor carpi ulnaris: Reliability and normative values for healthy young adults 从放松的拇外侧肌表面记录 H 反射:健康年轻人的可靠性和标准值
IF 2
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.06.001
Hesham N. Alrowayeh
{"title":"Surface recording of the H-reflex from a relaxed flexor carpi ulnaris: Reliability and normative values for healthy young adults","authors":"Hesham N. Alrowayeh","doi":"10.1016/j.cnp.2024.06.001","DOIUrl":"10.1016/j.cnp.2024.06.001","url":null,"abstract":"<div><p><em>Objective:</em> H-reflex recordings of the relaxed flexor carpi ulnaris (FCU) muscle are not frequently performed in clinical or laboratory settings. There are no normative values or reliability standards. This is most likely because of technical difficulties associated with this technique. This study performed surface recordings of the H-reflex of relaxed FCU muscles to establish the normative values and the reliability of these recordings. <em>Methods:</em> The maximum amplitude and latency of the FCU H-reflex were recorded bilaterally in 53 healthy young adults. Normative values and interclass correlation coefficients (ICCs) were calculated. <em>Results:</em> The amplitude of the relaxed FCU H-reflex were recorded in nearly all participants (96 %). The FCU H-reflex average maximum amplitude was 1.35 mV. The average latency was 18.8 ms. H-reflex amplitude and latency were not statistically different among gender or limb sides. Amplitude and latency were recoded reliably both within and between sessions with ICCs ranging from 0.96 to 0.99. <em>Conclusions:</em> Recordings of the relaxed FCU H-reflex were readily available and could be assessed reliably within and between sessions. <em>Significance:</em> This method might be used more frequently in clinical and laboratory settings to examine C7 and C8 spinal segments and upper limb muscle normal function or neuromuscular pathology.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 205-210"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X24000179/pdfft?md5=13b4b259c3ef8951cee3bc76e41fad76&pid=1-s2.0-S2467981X24000179-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141402216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children 中线非发作性节律波形可能是儿童史密斯-格林斯莫尔综合征的脑电生物标志物
IF 1.7
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.02.001
Valerio Simonelli , Anna Rita Ferrari , Roberta Battini , Paola Brovedani , Emanuele Bartolini
{"title":"Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children","authors":"Valerio Simonelli ,&nbsp;Anna Rita Ferrari ,&nbsp;Roberta Battini ,&nbsp;Paola Brovedani ,&nbsp;Emanuele Bartolini","doi":"10.1016/j.cnp.2024.02.001","DOIUrl":"https://doi.org/10.1016/j.cnp.2024.02.001","url":null,"abstract":"<div><h3>Introduction</h3><p>Pathogenic variants of the MTOR gene result in the Smith-Kingsmore syndrome, whose phenotypical spectrum includes facial dysmorphisms and neurological features. Expressivity is variable, patients exhibit a combination of intellectual disability, macrocephaly and epilepsy. The diagnosis can be missed, failing to detect the causative pathogenic mutation in patients with somatic mosaicism or even skipping to analyze <em>MTOR</em> when the phenotype is not completely expressed.</p></div><div><h3>Case study</h3><p>Herein, we report two children harboring the same MTOR recurring mutation (c.5395G&gt;A/p.Glu1799Lys) whose EEG displayed a peculiar combination of midline rhythmic waveforms and asynchronous spike-and-wave discharges with anterior fast activity in sleep and wake. <strong>Conclusion</strong>: We suggest these features might be considered as possible hallmarks of the syndrome and could aid to expedite the diagnosis when the phenotype is incomplete.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 102-105"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X2400009X/pdfft?md5=3a1227099809ea34332686792ca17474&pid=1-s2.0-S2467981X2400009X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140067182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Examining short interval intracortical inhibition with different transcranial magnetic stimulation-induced current directions in ALS 用不同的经颅磁刺激诱导电流方向研究 ALS 的短间歇皮层内抑制作用
IF 1.7
Clinical Neurophysiology Practice Pub Date : 2024-01-01 DOI: 10.1016/j.cnp.2024.03.001
Roisin McMackin , Yasmine Tadjine , Antonio Fasano , Matthew Mitchell , Mark Heverin , Friedemann Awiszus , Bahman Nasseroleslami , Richard G. Carson , Orla Hardiman
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