Pub Date : 2025-11-01Epub Date: 2025-08-05DOI: 10.1016/j.ejpn.2025.04.011
Adrián García Ron , Eva Arias Vivas , Guillermo Fernando Ruiz Ocaña de las Cuevas , Elsa Santana Cabrera , Rafael Sánchez-del Hoyo , Marta Bote Gascón
{"title":"Corrigendum to “Utility of greater occipital nerve anesthetic blockade in the treatment of status migrainosus in the pediatric emergency department” [Europ. J. Paediatr. Neurol. 55 (2025) 65-69]","authors":"Adrián García Ron , Eva Arias Vivas , Guillermo Fernando Ruiz Ocaña de las Cuevas , Elsa Santana Cabrera , Rafael Sánchez-del Hoyo , Marta Bote Gascón","doi":"10.1016/j.ejpn.2025.04.011","DOIUrl":"10.1016/j.ejpn.2025.04.011","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Page 120"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01Epub Date: 2025-09-25DOI: 10.1016/j.ejpn.2025.09.002
Guido Goj , Jelte Helfferich , Ines El Naggar , Ulrike Noßwitz , Eva Bültmann , Deiva Kumaran , Jena Chung , Ariane Biebl , Leon Steigleder , Dorothea Holzwarth , Eva-Maria Wendel , Andrea Bevot , Hannes Andreas Nobel , Jan G. Hengstler , Robert Cleaveland , Andreas Panzer , K. Rostasy
Background
Acute flaccid myelitis (AFM) is characterized by acute onset of flaccid limb weakness, MRI abnormalities in the spinal cord grey matter and CSF pleocytosis often associated with enterovirus infections. MOG-associated diseases (MOGAD) can manifest with similar neuroradilogical features.
Objective
To analyze MRI findings in patients with AFM at baseline and follow-up in comparison to other forms of childhood transverse myelitis such as MOGAD.
Patients and methods
Children from 11 European centers who fulfilled the clinical criteria of AFM were included. Brain and spinal MRI was performed at various stages of the disease course. MRI scans were evaluated using a previously established scoring table and compared with MRI scans of a recently published cohort of children with different forms of transverse myelitis including MOGAD.
Results
We included 15 patients (8 females, 7 males, age range: 9 months-9,11 years). In 10/15 patients enterovirus was detected in respiratory/rectal specimens. At first presentation 13/15 patients presented with a longitudinal extensive transverse myelitis like involvement. Cervical grey matter was involved in almost all children. Axial involvement either manifested as grey matter alone or a mixture of white matter and grey matter hyperintensity in T2. Nerve root enhancement was found in 2/15 and leptomeningeal enhancement in 1/15 patients. 5/15 children had brainstem lesions. Follow-up MRI revealed residual T2 hyperintensities in 7/11 patients. Compared to patients with MOGAD AFM patients showed equally good resolution of MRI lesions overtime.
Conclusion
Longitudinal spinal cord lesions mainly affecting the grey matter are characteristic of AFM whereas supratentorial lesions are less common. There is no significant difference between AFM and MOGAD concerning the resolution of lesions overtime.
{"title":"Evolution of neuroimaging features in children with acute flaccid myelitis compared to other forms of childhood myelitis","authors":"Guido Goj , Jelte Helfferich , Ines El Naggar , Ulrike Noßwitz , Eva Bültmann , Deiva Kumaran , Jena Chung , Ariane Biebl , Leon Steigleder , Dorothea Holzwarth , Eva-Maria Wendel , Andrea Bevot , Hannes Andreas Nobel , Jan G. Hengstler , Robert Cleaveland , Andreas Panzer , K. Rostasy","doi":"10.1016/j.ejpn.2025.09.002","DOIUrl":"10.1016/j.ejpn.2025.09.002","url":null,"abstract":"<div><h3>Background</h3><div>Acute flaccid myelitis (AFM) is characterized by acute onset of flaccid limb weakness, MRI abnormalities in the spinal cord grey matter and CSF pleocytosis often associated with enterovirus infections. <em>MOG-associated diseases (MOGAD) can manifest with similar neuroradilogical features</em>.</div></div><div><h3>Objective</h3><div>To analyze MRI findings in patients with AFM at baseline and follow-up <em>in comparison to other forms of childhood transverse myelitis such as MOGAD.</em></div></div><div><h3>Patients and methods</h3><div>Children from 11 European centers who fulfilled the clinical criteria of AFM were included. Brain and spinal MRI was performed at various stages of the disease course. MRI scans were evaluated using a previously established scoring table and <em>compared with MRI scans of a recently published cohort of children with different forms of transverse myelitis including MOGAD</em>.</div></div><div><h3>Results</h3><div>We included 15 patients (8 females, 7 males, age range: 9 months-9,11 years). In 10/15 patients enterovirus was detected in respiratory/rectal specimens. At first presentation 13/15 patients presented with a longitudinal extensive transverse myelitis like involvement. Cervical grey matter was involved in almost all children. Axial involvement either manifested as grey matter alone or a mixture of white matter and grey matter hyperintensity in T2. Nerve root enhancement was found in 2/15 and leptomeningeal enhancement in 1/15 patients. 5/15 children had brainstem lesions. Follow-up MRI revealed residual T2 hyperintensities in 7/11 patients. Compared to patients with MOGAD AFM patients showed equally good resolution of MRI lesions overtime.</div></div><div><h3>Conclusion</h3><div>Longitudinal spinal cord lesions mainly affecting the grey matter are characteristic of AFM whereas supratentorial lesions are less common. There is no significant difference between AFM and MOGAD concerning the resolution of lesions overtime.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 18-22"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vitamin B12 deficiency in infancy can lead to global developmental delay or regression along with skin pigmentation, hair changes and tremors, commonly known as the infantile tremor syndrome (ITS). Although a treatable entity, the data on the long-term neuro-developmental outcomes of these infants is lacking. In this cross-sectional study, a follow-up cohort of 35 children (aged ≥2 years) with ITS, were assessed for neuro-developmental outcomes using Malin's adaptation of the Vineland Social Maturity Scale (VSMS). A total of 35 children (17 males) were enrolled. The mean age at the social quotient (SQ) assessment was 30 months (SD 7.4). The mean duration of follow-up was 16.3 months (SD 8.3). Only 9 cases (26 %) had an SQ in the average range (85–105), while 18 children (51 %) had a borderline disability (SQ, 70–84). Seven children had an SQ in the mild disability range (55–69), and one child had an SQ of <55. Despite rapid improvement in the immediate post-treatment phase, these infants have significant developmental delays in follow-up.
{"title":"Neuro-developmental outcomes in infants with vitamin B12-deficiency and neurologic features","authors":"Juhi Gupta , Pragati Jeenwal , Sayoni Roy Chawdhary , Richa Choudhary , Ankita Gupta , Gunjan Solanki , R.N. Sehra , Kusum Devpura","doi":"10.1016/j.ejpn.2025.10.003","DOIUrl":"10.1016/j.ejpn.2025.10.003","url":null,"abstract":"<div><div>Vitamin B12 deficiency in infancy can lead to global developmental delay or regression along with skin pigmentation, hair changes and tremors, commonly known as the infantile tremor syndrome (ITS). Although a treatable entity, the data on the long-term neuro-developmental outcomes of these infants is lacking. In this cross-sectional study, a follow-up cohort of 35 children (aged ≥2 years) with ITS, were assessed for neuro-developmental outcomes using Malin's adaptation of the Vineland Social Maturity Scale (VSMS). A total of 35 children (17 males) were enrolled. The mean age at the social quotient (SQ) assessment was 30 months (SD 7.4). The mean duration of follow-up was 16.3 months (SD 8.3). Only 9 cases (26 %) had an SQ in the average range (85–105), while 18 children (51 %) had a borderline disability (SQ, 70–84). Seven children had an SQ in the mild disability range (55–69), and one child had an SQ of <55. Despite rapid improvement in the immediate post-treatment phase, these infants have significant developmental delays in follow-up.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 107-113"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145363121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tuberous Sclerosis Complex (TSC) is a rare, multisystem genetic disorder with highly variable clinical manifestations. While international registries such as TOSCA have provided large-scale data, national-level studies remain limited. This study represents the first national cohort analysis of TSC patients in Greece, providing comprehensive insights into clinical characteristics, genotype-phenotype correlations, and previously underreported rare manifestations.
Methods
A descriptive analysis was conducted on 115 TSC patients diagnosed based on the latest criteria. Clinical, genetic, and treatment-related data were analysed, with a particular focus on neurological, renal, cardiac, dermatological, and pulmonary manifestations, as well as rare or atypical disease presentations.
Results
The median age at diagnosis was 1.2 years (range: 0–43 years). Epilepsy was the most frequent initial symptom (70.4 %), with drug-resistant epilepsy (DRE) affecting 39.5 % of cases. Intellectual disability, autism spectrum disorder, and behavioral issues correlated significantly with early seizure onset and TSC2 variants. Common manifestations include cortical tubers (93.9 %), subependymal nodules (92.2 %), angiomyolipomas (48.7 %), and cardiac rhabdomyoma (33 %). Notably, we report several rare manifestations, including high-grade glioma in a pediatric patient, diffuse lipomatosis, pancreatic neuroendocrine tumours, rectal polyps, and erythema nodosum presented in a patient on everolimus therapy, further highlighting the systemic complexity and malignancy risks in TSC.
Conclusions
Our study provides novel epidemiological and clinical data on TSC in Greece, reinforcing genotype-phenotype correlations and expanding the spectrum of rare manifestations. These findings emphasise the need for lifelong surveillance, multidisciplinary management, and early detection strategies to mitigate long-term complications. This study also contributes to the broader understanding of TSC by documenting atypical presentations that may inform future clinical guidelines and patient care strategies.
{"title":"\"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations\"","authors":"Maria Spanou , Vasileios Skoutelis , Zacharias Dimitriadis , Eleftheria Kokkinou , Konstantina Kosma , Pelagia Vorgia , Kleoniki Roka , Georgios Niotakis , Polyxeni Pelekouda , Christina Sidira , Maria Kyriazi , Chrysanthi Tsimakidi , Minas Kapetanakis , Thomas Mprantzos , Anastasios Mitrakos , Stella Mouskou , Pinelopi Dragoumi , Konstantinos Voudris , Charalambos Kotsalis , Evangelos Pavlou , Argirios Dinopoulos","doi":"10.1016/j.ejpn.2025.10.005","DOIUrl":"10.1016/j.ejpn.2025.10.005","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous Sclerosis Complex (TSC) is a rare, multisystem genetic disorder with highly variable clinical manifestations. While international registries such as TOSCA have provided large-scale data, national-level studies remain limited. This study represents the first national cohort analysis of TSC patients in Greece, providing comprehensive insights into clinical characteristics, genotype-phenotype correlations, and previously underreported rare manifestations.</div></div><div><h3>Methods</h3><div>A descriptive analysis was conducted on 115 TSC patients diagnosed based on the latest criteria. Clinical, genetic, and treatment-related data were analysed, with a particular focus on neurological, renal, cardiac, dermatological, and pulmonary manifestations, as well as rare or atypical disease presentations.</div></div><div><h3>Results</h3><div>The median age at diagnosis was 1.2 years (range: 0–43 years). Epilepsy was the most frequent initial symptom (70.4 %), with drug-resistant epilepsy (DRE) affecting 39.5 % of cases. Intellectual disability, autism spectrum disorder, and behavioral issues correlated significantly with early seizure onset and <em>TSC2</em> variants. Common manifestations include cortical tubers (93.9 %), subependymal nodules (92.2 %), angiomyolipomas (48.7 %), and cardiac rhabdomyoma (33 %). Notably, we report several rare manifestations, including high-grade glioma in a pediatric patient, diffuse lipomatosis, pancreatic neuroendocrine tumours, rectal polyps, and erythema nodosum presented in a patient on everolimus therapy, further highlighting the systemic complexity and malignancy risks in TSC.</div></div><div><h3>Conclusions</h3><div>Our study provides novel epidemiological and clinical data on TSC in Greece, reinforcing genotype-phenotype correlations and expanding the spectrum of rare manifestations. These findings emphasise the need for lifelong surveillance, multidisciplinary management, and early detection strategies to mitigate long-term complications. This study also contributes to the broader understanding of TSC by documenting atypical presentations that may inform future clinical guidelines and patient care strategies.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"59 ","pages":"Pages 60-73"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-01Epub Date: 2025-06-30DOI: 10.1016/j.ejpn.2025.06.002
Ramya Ramesh Babu , Madhuri Maganthi , Dipanjana Datta , Joanne Ng , Gauri Krishna , Ann Agnes Mathew
Aim
To correlate SMN2 CN with age of disease onset, severity, motor ability and comorbidities across all SMA types from India.
Methods
This retrospective study involved the collection and analysis of clinical data, motor assessment scores, and SMN genetics from a cohort of 200 genetically confirmed SMA patients who were referred to our Paediatric Neuromuscular Centre over two years.
Results
Among the 200 subjects, 49 had SMA1, 82 had SMA2, 64 had SMA3, and 5 had SMA4. The majority of patients were male (59 %), and most hailed from the five Southern Indian states. Notably, 23 % of patients exhibited parental consanguinity. Our analysis revealed a strong correlation between the number of SMN2 copies and disease onset, as well as the achievement of developmental milestones. This trend was consistent with formal motor assessment scores and the presence and severity of co-morbidities, underscoring the pivotal role of SMN2 as a disease modifier. Additionally, we observed a small subset of patients with clinically diverse SMA types but identical SMN2 CN.
Interpretation
This study emphasizes the critical role of SMN2 as a disease modifier in SMA, as evidenced by its strong correlation with disease phenotype, motor scores, and the occurrence of co-morbidities. The findings underscore the importance of close monitoring and adherence to standard of care (SOC) protocols, which facilitate the proactive management of complications and co-morbidities. These practices contribute to an improved quality of life and better outcomes for SMA patients in the era of novel therapeutic approaches.
{"title":"Genotype – phenotype correlation of Spinal Muscular Atrophy in the era of disease modifying therapies: A tertiary Indian experience","authors":"Ramya Ramesh Babu , Madhuri Maganthi , Dipanjana Datta , Joanne Ng , Gauri Krishna , Ann Agnes Mathew","doi":"10.1016/j.ejpn.2025.06.002","DOIUrl":"10.1016/j.ejpn.2025.06.002","url":null,"abstract":"<div><h3>Aim</h3><div>To correlate <em>SMN2</em> CN with age of disease onset, severity, motor ability and comorbidities across all SMA types from India.</div></div><div><h3>Methods</h3><div>This retrospective study involved the collection and analysis of clinical data, motor assessment scores, and <em>SMN</em> genetics from a cohort of 200 genetically confirmed SMA patients who were referred to our Paediatric Neuromuscular Centre over two years.</div></div><div><h3>Results</h3><div>Among the 200 subjects, 49 had SMA1, 82 had SMA2, 64 had SMA3, and 5 had SMA4. The majority of patients were male (59 %), and most hailed from the five Southern Indian states. Notably, 23 % of patients exhibited parental consanguinity. Our analysis revealed a strong correlation between the number of <em>SMN2</em> copies and disease onset, as well as the achievement of developmental milestones. This trend was consistent with formal motor assessment scores and the presence and severity of co-morbidities, underscoring the pivotal role of <em>SMN2</em> as a disease modifier. Additionally, we observed a small subset of patients with clinically diverse SMA types but identical <em>SMN2</em> CN.</div></div><div><h3>Interpretation</h3><div>This study emphasizes the critical role of <em>SMN2</em> as a disease modifier in SMA, as evidenced by its strong correlation with disease phenotype, motor scores, and the occurrence of co-morbidities. The findings underscore the importance of close monitoring and adherence to standard of care (SOC) protocols, which facilitate the proactive management of complications and co-morbidities. These practices contribute to an improved quality of life and better outcomes for SMA patients in the era of novel therapeutic approaches.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 5-13"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144653219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-01Epub Date: 2025-08-18DOI: 10.1016/j.ejpn.2025.08.003
Coriene Catsman-Berrevoets
{"title":"Deepening the understanding of mechanisms of antiepileptic effects of the ketogenic diet in children with AFG2A-related encephalopathy","authors":"Coriene Catsman-Berrevoets","doi":"10.1016/j.ejpn.2025.08.003","DOIUrl":"10.1016/j.ejpn.2025.08.003","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Page A4"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-09-01Epub Date: 2025-07-19DOI: 10.1016/j.ejpn.2025.07.007
Laia Nou-Fontanet , Uliana Musokhranova , Alia Ramírez Camacho , Verónica Delgadillo Chilavert , Víctor Soto Insuga , Luisa Arrabal Fernández , Itziar Alonso-Colmenero , Alexis Arzimanoglou , Ángeles García Cazorla , Alfonso Oyarzabal , Carmen Fons
AFG2A-related encephalopathy (AFG2A-RE) is a neurodevelopmental disorder that may present with drug-resistant epilepsy (DRE). Our aims were: to evaluate the clinical response to a ketogenic diet (KD) in a series of patients with AFG2A-RE and DRE, and to describe the mitochondrial effects in patient's fibroblasts cultured in a KD mimicking medium (KD-MM). This was a collaborative, descriptive, and experimental study involving a total of five patients. The primary outcomes assessed following ketogenic diet (KD) treatment were the percentage of seizure reduction and the parents' global impression of change. Additionally, patient-derived fibroblasts (n = 3) were cultured in a KD-MM to evaluate effects on mitochondrial dynamics and metabolism. The mean age of the patients was 7.9 years, and four were males. All patients presented with developmental and epileptic encephalopathy with DRE, motor impairment, severe intellectual disability, deafness, and microcephaly. In all but one case, the initial epilepsy presentation was infantile epileptic spasms syndrome (IESS), with a mean age at onset of 13.6 months. Four patients received KD treatment for DRE, with seizure reduction rates of 0 %, 30 %, 70 % and 100 %, respectively. Improvement in social interaction improvement was observed in one patient, while improvements in attentional and motor function were noted in two. In vitro studies demonstrated that AFG2A-deficient fibroblasts exhibited altered mitochondrial morphology and dynamics, as well as reduced ATP production and ROS levels. These abnormalities were significantly reversed when the fibroblasts were cultured in KD-MM. In conclusion, this small series of patients with AFG2A-RE showed beneficial effects from KD treatment. Greater seizure control was achieved when the ketogenic diet was initiated during early childhood. These findings are preliminary and validation in multicenter prospective study is required.
{"title":"AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation","authors":"Laia Nou-Fontanet , Uliana Musokhranova , Alia Ramírez Camacho , Verónica Delgadillo Chilavert , Víctor Soto Insuga , Luisa Arrabal Fernández , Itziar Alonso-Colmenero , Alexis Arzimanoglou , Ángeles García Cazorla , Alfonso Oyarzabal , Carmen Fons","doi":"10.1016/j.ejpn.2025.07.007","DOIUrl":"10.1016/j.ejpn.2025.07.007","url":null,"abstract":"<div><div>AFG2A-related encephalopathy (AFG2A-RE) is a neurodevelopmental disorder that may present with drug-resistant epilepsy (DRE). Our aims were: to evaluate the clinical response to a ketogenic diet (KD) in a series of patients with AFG2A-RE and DRE, and to describe the mitochondrial effects in patient's fibroblasts cultured in a KD mimicking medium (KD-MM). This was a collaborative, descriptive, and experimental study involving a total of five patients. The primary outcomes assessed following ketogenic diet (KD) treatment were the percentage of seizure reduction and the parents' global impression of change. Additionally, patient-derived fibroblasts (n = 3) were cultured in a KD-MM to evaluate effects on mitochondrial dynamics and metabolism. The mean age of the patients was 7.9 years, and four were males. All patients presented with developmental and epileptic encephalopathy with DRE, motor impairment, severe intellectual disability, deafness, and microcephaly. In all but one case, the initial epilepsy presentation was infantile epileptic spasms syndrome (IESS), with a mean age at onset of 13.6 months. Four patients received KD treatment for DRE, with seizure reduction rates of 0 %, 30 %, 70 % and 100 %, respectively. Improvement in social interaction improvement was observed in one patient, while improvements in attentional and motor function were noted in two. <em>In vitro</em> studies demonstrated that AFG2A-deficient fibroblasts exhibited altered mitochondrial morphology and dynamics, as well as reduced ATP production and ROS levels. These abnormalities were significantly reversed when the fibroblasts were cultured in KD-MM. In conclusion, this small series of patients with AFG2A-RE showed beneficial effects from KD treatment. Greater seizure control was achieved when the ketogenic diet was initiated during early childhood. These findings are preliminary and validation in multicenter prospective study is required.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 20-26"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144703959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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