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Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome or myoclonic–astatic epilepsy (MAE), represents a challenging pediatric epilepsy syndrome, initially described by Doose et al. in 1970. MAE accounts for 1%–2.2% of juvenile-onset epilepsy cases, characterized by normal early development, followed by seizure onset between 7 months and 6 years. Seizure types include myoclonic, myoclonic-atonic, generalized tonic–clonic, and atypical absences, often accompanied by nonconvulsive status epilepticus. Electroencephalogram typically shows parietal-dominant rhythmic theta activity or a posterior 4 Hz pattern. While conventional antiseizure medications (ASMs) offer some efficacy, outcomes vary widely, and up to 50% of patients may experience refractory seizures and poor intellectual outcomes. The ketogenic diet (KD), a high-fat, low-carbohydrate diet inducing ketosis, has shown promise in reducing seizure frequency and severity in refractory epilepsy, including MAE. This case report describes a successful outcome with a South Indian style KD in a 3-year-old boy with Doose syndrome presenting with 20–25 daily head drop seizures despite multiple ASMs and steroid therapy. Initiation of a home-based KD utilizing traditional household ingredients significantly reduced seizure frequency by 60% within 1 month and 80% within 2 months and was 100% seizure-free in 3rd month following KD, alongside developmental improvements. The KD was well-tolerated, with improved nutritional status. This case underscores KD's potential as a viable complementary therapy for MAE, emphasizing the need for ongoing parental support and supervision to ensure dietary adherence and optimize outcomes. It is commonly believed that the KD is challenging for the South Indian population to follow due to the high carbohydrate content in South Indian cuisine. However, this case demonstrates that a KD can indeed be tailored around South Indian dishes, highlighting the uniqueness of this approach. When the diet is customized to consider a child's dietary habits, culture, and cuisine, it becomes easier to follow over the long term, leading to effective seizure control. Further research is necessary to refine dietary protocols and evaluate long-term efficacy in MAE management. [ABSTRACT FROM AUTHOR]

Author(s): Arockia John [1]; Ranjith Kumar Manokaran [2]; L. N. Padmasani Venkataraman [1]; Gopinath Menon [3] To the editor, Neurological complications following vaccines are well documented. However, brachial plexopathy which [...]

Patients with de novo pathogenic mutations in the I GRIN2B i gene usually present with various neurodevelopmental disorders that include epilepsy, such as epileptic encephalopathy, autistic spectrum disorders, developmental delay, and intellectual disability [3] In our study, we have found a heterozygous missense mutation in the I GRIN2B i gene at exon I 12 i c.2452A > T (p.Met818Leu). Stosser et al had reported a similar missense mutation in GRIN2B c.2452 A > C;p.met818Leu [8] Memantine is an uncompetitive NMDAR antagonist that binds preferentially to the NMDAR-operated cation channels. Keywords: GRIN2B; memantine; epileptic encephalopathy; epileptic spasms EN GRIN2B memantine epileptic encephalopathy epileptic spasms 287 290 4 09/07/22 20220701 NES 220701 Conflict of Interest None declared. [Extracted from the article]

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a clinico-radiological syndrome in children secondary to viral or bacterial infections. The causes include viral (influenza, human herpes virus-6, adenovirus, rota) as well as bacterial infections. However, AESD with dengue infection has not been reported earlier. Here, we present an infant with dengue infection and AESD which recovered completely following treatment with intravenous human immunoglobulin therapy. A 9-month-old girl presented with seizures following fever and loose stools. Seizures recurred after 2 days of seizure-free interval. Cerebrospinal fluid analysis was not contributory. Dengue infection was confirmed by lab tests. Magnetic resonance imaging brain after the second seizure revealed diffusion restriction involving the bilateral frontal and parietal white matter, both hemispheres with a typical central perisylvian sparing lesion suggestive of AESD. This case report expands the reported spectrum of neurological manifestations of dengue infection. [ABSTRACT FROM AUTHOR]

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms. [ABSTRACT FROM AUTHOR]

Introduction: Drug-resistant epilepsy (DRE) is a challenging neurological condition in infants. Breastfeeding is widely regarded as the gold standard for infant nutrition due to its immunological and developmental benefits. However, in certain cases of genetic DRE, breastfeeding has been associated with increased seizure frequency, necessitating alternative nutritional strategies. This study represents the first investigation that evaluates the efficacy of a milk-based ketogenic diet (KD) in infants aged one to six months with genetic DRE focusing on seizure control, nutritional status, developmental progress, and safety, as measured by metabolic and biochemical parameters. As the first study of its kind, this research offers a unique contribution to the field, paving the way for further investigations into diet-based therapies for refractory epilepsy in early life., Methodology: This prospective study included eight infants with genetic DRE, aged one to six months. Baseline data on seizure frequency, nutritional status, developmental milestones, and biochemical parameters were collected. The KD was started at a 2:1 ratio based on a non-fasting KD protocol and was optimized based on need and tolerance. Nutritional status was assessed with the Strong Kids Nutrition Screening Tool. Seizure frequency was tracked daily, and urine ketone levels were monitored to confirm ketosis. Biochemical parameters were measured at baseline and after six months. Paired t-tests were used to analyze data., Results: At baseline, the mean seizure frequency was 16.5/day. After six months on the KD, the mean seizure frequency decreased to 4.6/day (p < 0.001). Nutritional status improved significantly. Urine ketone levels remained consistently high. Biochemical parameters, including triglycerides and random blood sugar, showed no significant changes, confirming the diet's safety., Conclusion: This study demonstrates that a milk-based KD is an effective and safe treatment for reducing seizures and improving nutritional and developmental outcomes in infants with genetic DRE. Persistent ketosis, indicated by large urine ketone levels, was a reliable biomarker of diet efficacy. Regular monitoring and careful parental counseling are essential for optimizing treatment outcomes in this vulnerable population. Further research with larger cohorts is needed to refine dietary protocols for infants with DRE., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Institutional Ethics Committee of Sri Ramachandra Institute of Higher Education and Research issued approval IEC/24/MAR/185/09. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2025, Basu et al.)

Objective: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort., Methods: Families with molecularly confirmed diagnoses of KCTD7-related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, treatment, genetic testing, electroencephalographic (EEG), and imaging-related variables were collected and summarized., Results: Forty-two patients (36 families) were included. The median age at first seizure was 14 months (interquartile range = 11.75-22.5). Myoclonic seizures were frequently the first seizure type noted (n = 18, 43.9%). EEG and brain magnetic resonance imaging findings were variable. Many patients exhibited delayed development with subsequent progressive regression (n = 16, 38.1%). Twenty-one cases with genetic testing available (55%) had previously reported variants in KCTD7, and 17 cases (45%) had novel variants in KCTD7 gene. Six patients died in the cohort (age range = 1.5-21 years). The systematic review identified 23 eligible studies and further identified 59 previously reported cases of KCTD7-related disorders from the literature. The phenotype for the majority of the reported cases was consistent with a PME (n = 52, 88%). Other reported phenotypes in the literature included opsoclonus myoclonus ataxia syndrome (n = 2), myoclonus dystonia (n = 2), and neuronal ceroid lipofuscinosis (n = 3). Eight published cases died over time (14%, age range = 3-18 years)., Significance: This study cohort and systematic review consolidated the phenotypic spectrum and natural history of KCTD7-related disorders. Early onset drug-resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials., (© 2024 International League Against Epilepsy.)

Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a novel mutation in PROSC gene. He responded very well to pyridoxine and has been seizure free since the beginning of the treatment. PROSC gene mutations have been recently described as a cause for pyridoxine-dependent epilepsy. Here, we describe a first case report of PROSC mutation from India with a rare genetic variant presenting as pyridoxine-dependent epilepsy., Competing Interests: There are no conflicts of interest., (Copyright: © 2021 Journal of Pediatric Neurosciences.)