{"title":"Isolated Cervical Cord Infarct in a Neonate.","authors":"Kristen M Yang, Mekka R Garcia, Devorah Segal","doi":"10.1177/08830738241273362","DOIUrl":"10.1177/08830738241273362","url":null,"abstract":"<p><p>Cases of isolated spinal cord ischemia resulting in symptoms in neonates are rare, and there are even fewer reported cases in atraumatic births. We present a case of a presumed isolated cervical cord ischemic injury, discuss differentials to consider when evaluating a neonatal spinal cord injury, and highlight the difficulties of diagnosing a spinal cord infarction.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"521-526"},"PeriodicalIF":2.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lindsay Johnson-Bishop, Cemal Karakas, Stephen F Kralik, Clay T Cohen, Mark Zobeck, Nick Park, Karen Rabin, Davut Pehlivan, Saleh Bhar
{"title":"Cerebral Sinus Venous Thrombosis in Pediatric Acute Lymphoblastic Leukemia: Incidence, Clinical Characteristics, and Long-term Neurologic Outcomes.","authors":"Lindsay Johnson-Bishop, Cemal Karakas, Stephen F Kralik, Clay T Cohen, Mark Zobeck, Nick Park, Karen Rabin, Davut Pehlivan, Saleh Bhar","doi":"10.1177/08830738241282910","DOIUrl":"10.1177/08830738241282910","url":null,"abstract":"<p><strong>Objective: </strong>To describe the incidence, clinical characteristics, and long-term outcomes of cerebral sinus venous thrombosis in children with acute lymphoblastic leukemia.</p><p><strong>Methods: </strong>This was a retrospective cohort study comprising pediatric patients with newly diagnosed or first-relapse acute lymphoblastic leukemia who developed cerebral sinus venous thrombosis at Texas Children's Hospital from 2002 to 2019.</p><p><strong>Results: </strong>Nineteen cases (1.7%) with cerebral sinus venous thrombosis were identified in all pediatric patients with acute lymphoblastic leukemia (n = 1129). Increased risk of cerebral sinus venous thrombosis was observed with age >10 years (<i>P </i>= .006). Twelve cases (63%) occurred during the induction, 4 (21%) during maintenance, and 3 (16%) during the consolidation phases of leukemia therapy. Seizures (10/19) and headaches (9/19) were the most common presenting symptoms. After treatment with anticoagulation therapy, we observed full resolution of thrombosis in 10 (53%) and partial resolution in 8 patients (42%). Long-term neurologic outcomes at follow-up in the 14 patients who survived included normal neurologic examinations (n = 10), epilepsy (n = 3), and focal neurologic deficits (n = 2). The death occurred in 5 individuals.</p><p><strong>Conclusion: </strong>Cerebral sinus venous thrombosis is a notable complication of pediatric acute lymphoblastic leukemia therapy. Older age (>10 years) was a risk factor for developing cerebral sinus venous thrombosis. Despite variable patient presentations and treatment durations, favorable clinical outcomes were observed in most patients after the treatment with anticoagulation for a minimum of 3 months.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"494-499"},"PeriodicalIF":2.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yana A Wilson, Natasha Garrity, Hayley Smithers-Sheedy, Shona Goldsmith, Tasneem Karim, Georgina Henry, Simon Paget, Maria Kyriagis, Nadia Badawi, Gareth Baynam, Jozef Gecz, Sarah McIntyre
{"title":"Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.","authors":"Yana A Wilson, Natasha Garrity, Hayley Smithers-Sheedy, Shona Goldsmith, Tasneem Karim, Georgina Henry, Simon Paget, Maria Kyriagis, Nadia Badawi, Gareth Baynam, Jozef Gecz, Sarah McIntyre","doi":"10.1177/08830738241277231","DOIUrl":"10.1177/08830738241277231","url":null,"abstract":"<p><p>A growing number of genes have been identified in individuals with cerebral palsy (CP); however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. An expert panel developed 6 criteria to review the reported cerebral palsy phenotype/description for each included study. Clinically relevant genes were extracted from each study and stratified into 2 tiers based on the quality. Eighteen studies were included. There was high confidence in the reported cerebral palsy description/phenotype from 8 studies. Of the initial 373 clinically relevant genes, 85 were tier II genes. Individual cerebral palsy motor disorder and phenotype data were absent for 349 of these individuals, limiting further analysis. The tier I gene list was composed of 6 genes: <i>ATL1</i>, <i>COL4A1</i>, <i>GNAO1</i>, <i>KIF1A</i>, <i>SPAST</i>, and <i>TUBA1A</i>. Bilateral spasticity was the most common motor disorder reported in individuals with variants in all 6 genes, and most individuals had accompanying conditions. Prioritizing the accurate reporting of motor and nonmotor phenotypes is crucial for future cerebral palsy genetic studies to further understand the underlying neurobiology.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"500-509"},"PeriodicalIF":2.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Oyoung Kim, Subeen Hong, Young Mi Jung, Hyun-Joo Seol, Sunghun Na, Jin Gon Bae, Ki Hoon Ahn, Mi-Young Lee, Ha Yan Kwon, Ji-Hee Sung, Soo Ran Choi, Seung Cheol Kim, Kyung A Lee, Hee Sun Kim, Mi Ju Kim, Ji Eun Song, Han Sung Hwang, Hye-Sung Won, Jong Kwan Jun, Hyun Sun Ko
{"title":"Prenatal Diagnosis and Clinical Outcomes of Isolated Mega Cisterna Magna.","authors":"Oyoung Kim, Subeen Hong, Young Mi Jung, Hyun-Joo Seol, Sunghun Na, Jin Gon Bae, Ki Hoon Ahn, Mi-Young Lee, Ha Yan Kwon, Ji-Hee Sung, Soo Ran Choi, Seung Cheol Kim, Kyung A Lee, Hee Sun Kim, Mi Ju Kim, Ji Eun Song, Han Sung Hwang, Hye-Sung Won, Jong Kwan Jun, Hyun Sun Ko","doi":"10.1177/08830738241282037","DOIUrl":"10.1177/08830738241282037","url":null,"abstract":"<p><p><b>Objective:</b> The study aimed to investigate the clinical outcomes of fetuses diagnosed with isolated mega cisterna magna in utero. <b>Methods:</b> A multicenter retrospective cohort study was conducted across 18 university hospitals from 2010 to 2019. Cases diagnosed with isolated mega cisterna magna, defined as a cisterna magna >10 mm with a normal cerebellar vermis and no cystic dilation of the fourth ventricle, were included. Cases with other central nervous system (CNS) anomalies, extra-central nervous system anomalies, chromosomal abnormalities, or congenital infections were excluded. Maternal demographics, prenatal findings, delivery outcomes, and postnatal outcomes were analyzed. <b>Results:</b> The mean gestational age at initial diagnosis was 28.6 ± 3.9 weeks, and the mean anteroposterior diameter of the cisterna magna was 12.5 ± 3.2 mm. Of the 71 cases initially assessed, 48 (67.6%) showed self-regression in utero. Postnatally, 13 cases (18.3%) had persistent isolated mega cisterna magna, whereas 10 cases (14.1%) were diagnosed with other central nervous system anomalies. Among the persistent isolated mega cisterna magna cases, one child exhibited delayed neurodevelopment. There was a higher incidence of isolated mega cisterna magna in male fetuses, which exhibited a significantly larger mean cisterna magna diameter compared with female fetuses (<i>P</i> = .045). <b>Conclusion:</b> Male fetuses exhibited a higher incidence of isolated mega cisterna magna compared with female fetuses and had larger anteroposterior diameters of the cisterna magna. The study demonstrated favorable neurodevelopmental outcomes associated with isolated mega cisterna magna, with self-regression observed in two-thirds of the cases. However, consecutive prenatal and postnatal evaluations for additional central nervous system or extra-central nervous system malformations need to be performed, considering the differences between prenatal and postnatal diagnoses.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"481-486"},"PeriodicalIF":2.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Richard B Carozza, Kristen Bolte, Elton B Greene, Shilpa B Reddy, NgocHanh H Vu
{"title":"Cerebral Cortical Encephalitis and Other Meningocortical Manifestations of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children: Case Series and Review of the Literature.","authors":"Richard B Carozza, Kristen Bolte, Elton B Greene, Shilpa B Reddy, NgocHanh H Vu","doi":"10.1177/08830738241282354","DOIUrl":"10.1177/08830738241282354","url":null,"abstract":"<p><p>Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease is a neuroinflammatory disorder (MOGAD) with heterogeneous phenotype including paroxysms of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, brainstem demyelination, and encephalitis. Fluid-attenuated inversion recovery hyperintense cortical lesions in MOG-associated encephalitis with seizures, or FLAMES, is a manifestation of cerebral cortical encephalitis seen less frequently than other typical MOG antibody-associated disease presentations. Cases of FLAMES are rarer in children, and frequently initially misdiagnosed with infectious meningoencephalitis. Other meningocortical manifestations of MOG antibody-associated disease have been described and likely exist along a continuum. In this retrospective single-center case series, we describe the demographic, clinical, radiographic, laboratory, and electroencephalographic features of 5 children with clinicoradiographic features consistent with the spectrum of MOG-IgG-positive meningocortical syndromes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"487-493"},"PeriodicalIF":2.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11497747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Effect of Video-Based Action Observation Training and Live Action Observation Training on Motor Function, Activity Participation, and Secondary Outcome Measures in Children With Spastic Diparetic Cerebral Palsy: A Randomized Controlled Study.","authors":"Dilan Demirtas Karaoba, Burcu Talu","doi":"10.1177/08830738241280838","DOIUrl":"10.1177/08830738241280838","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to investigate the effects of Video-Based Action Observation Training and Live Action Observation Training on motor function, activity participation, and secondary outcome measures in children with spastic diparetic cerebral palsy (CP).</p><p><strong>Materials and methods: </strong>Thirty-nine children with spastic diparetic cerebral palsy, aged 5-14 years, with Gross Motor Function Classification System I-III, were distributed in equal numbers to any of the Video-Based Action Observation Training (conventional physiotherapy + Video-Based Action Observation Training), Live Action Observation Training (conventional physiotherapy + Live Action Observation Training), and control (conventional physiotherapy) groups through stratified randomization. For 8 weeks, action observation training groups received 20 minutes of conventional physiotherapy followed by 20 minutes of action observation training, and the control group received 40 minutes of conventional physiotherapy. Primary outcome measures were Gross Motor Function Measurement and Child and Adolescent Scale of Participation, secondary outcome measures were Pediatric Berg Balance Scale, timed-up-and-go test, five times sit-to-stand test (FTSST), Gillette Functional Assessment Questionnaire (GFAQ), and 1-minute walk test (1MWT).</p><p><strong>Results: </strong>Improvements were observed in all other evaluation parameters of the groups except Gross Motor Function Measurement-lying and rolling (<i>P</i> = .066) in the Live Action Observation Training Group, and lying and rolling (<i>P</i> = .317) and crawling and kneeling (<i>P</i> = .063) motor subtests and Gillette Functional Assessment Questionnaire-walking scale (<i>P</i> = .513) in the control group. Comparisons of the increases in all other measurements between the groups, except for the dimensions of Gross Motor Function Measurement-lying and rolling (<i>P</i> = .172), were statistically significant (<i>P</i> < .05) and this difference was in favor of action observation training.</p><p><strong>Conclusion: </strong>It was found that 2 different AOTs applied in addition to conventional physiotherapy in children with spastic diparetic cerebral palsy were more effective on all outcomes than was conventional physiotherapy alone.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"470-480"},"PeriodicalIF":2.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zekiye Altun, Metin Ceyhan, Hongling Yuan, Deniz Kızmazoğlu, Safiye Aktaş, Nur Olgun
{"title":"Low Expression of CASP8 Could be a Prognostic Biomarker in Neuroblastoma Patients.","authors":"Zekiye Altun, Metin Ceyhan, Hongling Yuan, Deniz Kızmazoğlu, Safiye Aktaş, Nur Olgun","doi":"10.1177/08830738241273431","DOIUrl":"10.1177/08830738241273431","url":null,"abstract":"<p><p>The aim of study was to investigate whether CASP8 (CASPASE8) could be a biomarker for prognosis in neuroblastoma. The prognostic value of CASP8 was determined by analyzing CASP8 methylation status and gene expressions in the tumor tissues of 37 neuroblastoma patients. Bisulfite and quantitative multiplex-methylation-specific polymerase chain reaction (PCR) were used to identify the methylation status. CASP8 messenger ribonucleic acid (RNA) expression levels were determined using reverse transcriptase-quantitative PCR. CASP8 expression levels associated with prognostic value were also analyzed using the TARGET NBL (141 cases) database through PDX for Childhood Cancer Therapeutics (PCAT) and SEQC (498 cases) via the R2 platform. CASP8 methylation status was associated with risk groups, MYCN amplification, and 17q gain status. CASP8 expression was found to be statistically different between high- and low-risk neuroblastoma groups. Low expression of CASP8 was associated with MYCN amplification status. Low expression of CASP8 has shown statistically significant prognostic value through TARGET NBL and SEQC-498 data sets. CASP8 messenger RNA expressions and methylation status were associated with the MYCN amplified high-risk group in neuroblastoma. CASP8 messenger RNA expressions may be considered as a clinical prognostic marker in neuroblastoma.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"386-394"},"PeriodicalIF":2.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"We Don't Talk About X(Twitter): A Cross-Sectional Analysis of Social Media Utilization Among Neurologists.","authors":"Justin Rosati, Jaclyn M Martindale, Kathryn Xixis, Rachel Gottlieb-Smith, Gregory Russell, Nancy Bass, Jessica Goldstein","doi":"10.1177/08830738241273371","DOIUrl":"10.1177/08830738241273371","url":null,"abstract":"<p><strong>Background and objectives: </strong>Medical professionals use social media for career development, education, clinical outreach, or advocacy. Prior studies estimate that 25% to 65% of health care providers use social media professionally; however, the number of users and platforms are rapidly changing. Therefore, as part of a broader study, we set out to assess platform preferences and social media usage among neurologists.</p><p><strong>Methods: </strong>This was a multisite cross-sectional analysis consisting of a REDCap survey of clinicians, residents, and medical students. Faculty, trainees, or clinical year medical students interested in child neurology or adult neurology residency or fellowship programs within the United States were eligible to participate. Recruitment methods were broad to encompass as diverse and extensive participation as possible. Results were analyzed using descriptive statistics. Data are presented according to the STROBE guidelines.</p><p><strong>Results: </strong>Of the 226 neurology respondents, 55% (n = 124) were child neurology and 45% (n = 102) were adult neurology across all career stages, including students. Of the 70% who reported using social media in a professional capacity, the most commonly reported reasons were for networking and collaboration (n = 95, 60%), self-directed medical learning (n = 90, 57%), and brand building and reputation (n = 62, 39%). Twitter and Facebook were the most common and versatile platforms used by neurologists. Medical students had the highest documentation of social media scholarships on their curriculum vitae (37%, <i>P</i> = .016) and the most interest (33%, <i>P</i> = .016) in learning how to document social media scholarships if they were not already. Early faculty shared this interest more than residents, fellows, or mid-late career faculty. In all groups except for mid-late career faculty, a majority of respondents (>75%) showed interest in learning how to leverage social media for career development.</p><p><strong>Discussion: </strong>Social media is used professionally by a majority of neurologists, most commonly for networking, self-directed learning, and building individual brands. Opportunities exist to better understand platform preferences and ways to optimize their use for various professional activities as well as to provide education on effective professional use of social media including documentation for promotion.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"377-385"},"PeriodicalIF":2.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Review of Hyperventilation Activation in Diagnosis and Management of Childhood Absence Epilepsy.","authors":"Chethan K Rao, Rachel Kuperman","doi":"10.1177/08830738241273347","DOIUrl":"10.1177/08830738241273347","url":null,"abstract":"<p><p>Childhood absence epilepsy is one of the most prevalent pediatric epilepsy syndromes, but diagnostic delay is common and consequential. Childhood absence epilepsy is diagnosed by history and physical examination including hyperventilation with electroencephalography (EEG) used to confirm the diagnosis. Hyperventilation produces generalized spike-wave discharges on EEG in >90% of patients with childhood absence epilepsy and provokes clinical absence seizures consisting of brief loss of consciousness typically within 90 seconds. Child neurologists report a high volume of referrals for children with \"staring spells\" that strain already limited health care resources. Resources are further strained by the use of EEG for monitoring antiseizure medication effectiveness with unclear benefit. In this review, we examine the safety and efficacy of hyperventilation activation as a tool for the diagnosis and management of childhood absence seizures.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"425-432"},"PeriodicalIF":2.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.","authors":"Raffaele Falsaperla, Vincenzo Sortino, Valentina Giacchi, Marco Andrea Nicola Saporito, Silvia Marino, Lucia Giovanna Tardino, Lidia Marino, Alessia Gennaro, Martino Ruggieri, Chiara Barberi, Agata Polizzi","doi":"10.1177/08830738241273425","DOIUrl":"10.1177/08830738241273425","url":null,"abstract":"<p><p>Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.Aim of this study was to identify cases of neonatal hyperekplexia with a confirmed genetic diagnosis and to establish the genotype-phenotype correlation at onset. Articles were selected from 1993 to 2024 and PRISMA Statement was applied including newborns within 28 days of life. So, we retrieved from literature 14 cases of genetically confirmed neonatal hyperekplexia. The onset of clinical manifestations occurred in the first day of life in 8 of 14 patients (57.14%). Clinical findings were muscle stiffness (100%), startle reflex (66.66%), apnea/cyanosis (41.66%), positive nose-tapping test (33.33%), jerks (33.33%), jitteriness (25%), and ictal blinking (25%). Genes involved were <i>GLRA1</i> in 9 of 14 (64.28%), <i>SLC6A5</i> in 2 of 14 (14.28%), <i>GPHN</i> in 1 of 14 (7.14%), and <i>GLRB</i> in 2 of 14 (14.28%). Patients showed heterozygous (66.66%) or homozygous (33.33%) status. In 7 of 14 cases (50%), the condition occurred in other family members. A genotype-phenotype correlation was not achievable.Timely diagnosis is crucial to improve the natural history of hyperekplexia avoiding/reducing possible major complications such as sudden infant death syndrome, brain injury, and serious falls. Early differentiation from epilepsy minimizes treatment cost and improves the quality of life of patients.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"415-424"},"PeriodicalIF":2.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}