Aug 2026· Epileptic disorders· 0 citations· 62 references
Medicine
TL;DR
Epileptic seizures in patients with KBG syndrome are usually generalized and have an onset between infancy and mid-teens, and common epileptological features in KBG syndrome comprise the good response to antiseizure medication and, in most cases, the remitting nature of epilepsy.
Abstract
Background
AND
Objectives
KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy.
Materials And Methods
We conducted a literature review of previously published cases of patients with KBG syndrome and epilepsy in PubMed, Scopus, and Web of Science databases in English, focusing on seizure semiology and electroencephalographic features.
Results
Fifty-four studies were included in the review, including 233 patients with KBG syndrome and epilepsy. Most children with KBG syndrome and epilepsy (89.7%) had developmental delay and intellectual disability. The most common neurological symptoms were hypotonia (30.7%), sleep disturbances (20%), ataxia (18.7%), migraine (8.3%), and stereotypies (6.7%) (N = 75, available data on neurological symptoms). The median age of developing seizures was 4 years (range 1 month-51 years). Patients with KBG syndrome had most commonly generalized seizures (73.9%), although focal seizures occurred in 37.9% of cases (N = 140, available data on seizure type). Generalized tonic-clonic seizures were the most common seizure type (38.2%), followed by absences (26.6%), and focal seizures with or without preserved consciousness (21.9% and 19.1%, respectively). Interictal EEG showed focal and, less frequently, generalized discharges (24.6% vs. 15%) in the 118 patients with available EEG data. Almost 70% of patients were seizure-free after a mean follow-up of 9.9 years, while drug-resistant epilepsy was reported in 22.6% of cases. Patients with focal impaired consciousness seizures had significantly lower odds of achieving seizure freedom.
Conclusion
Epileptic seizures in patients with KBG syndrome are usually generalized and have an onset between infancy and mid-teens. Common epileptological features in KBG syndrome comprise the good response to antiseizure medication and, in most cases, the remitting nature of epilepsy. Drug-resistant epilepsy can be observed in up to one-third of cases.
BACKGROUND: Pendred syndrome (PS) is one of the main causes of congenital hearing loss and is estimated to be the cause of 4-7.5% of hereditary deafness cases worldwide. Pendred syndrome is an autosomal recessive disorder associated with alterations in the SLC26A4 gene characterized by sensorineural hearing loss and goiter. The aim of the study is to compile a review providing an accurate and updated description of the audiological features of PS, offering clinicians a practical tool for a feasible and early diagnosis.
METHODS: A detailed review of the English literature to date on hearing loss and PS has been performed using Pubmed, Scopus, Google Scholar and Medline databases. The literature review was performed using the guidelines proposed by the study “Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA)” for scoping review.
RESULTS: A total of 13 full text articles were included in this review, collecting 75 patients with PS. The audiological outcomes, clinical variants, presence of enlarged vestibular aqueduct and Mondini dysplasia, and thyroid status were described for each patient.
CONCLUSIONS: Pendred syndrome is a condition in which hearing loss is among the main features and can manifest at early stages, eventually impacting children’s language development. Pendred syndrome may occur in different clinical variants, which can make diagnosis challenging. It is therefore crucial for clinicians to have a detailed knowledge of the condition. Further studies on large, multicenter case series will therefore be essential to expand knowledge of the disease and enable multidisciplinary development of care.
Marianna Manuelli, Andrea Migliorelli, C. Bianchini et al.· The journal of international...· 0 citations
This Saudi case series adds to the growing evidence of clinical heterogeneity in KBGS, suggesting possible underrecognized systemic involvement and cautious interpretation is required given the small sample size.
Mai S. Labani, Z. Rahbeeni· Frontiers in Pediatrics· 0 citations
PURPOSE
WWOX-related developmental and epileptic encephalopathy (WOREE) is a rare autosomal recessive disorder caused by biallelic pathogenic WWOX variants, characterized by very early-onset epilepsy, profound developmental delay, and progressive brain abnormalities. Detailed electroclinical descriptions remain limited.
METHODS
We conducted a retrospective study of seven patients with pathogenic/likely pathogenic WWOX variants. Clinical features, seizure evolution, EEG findings, brain MRI, and genetic data were reviewed. Epilepsy syndromes were classified according to International League against Epilepsy (ILAE) criteria. Variants were identified through next-generation sequencing and interpreted following American College of Medical Genetics and Genomics (ACMG) guidelines.
RESULTS
Median seizure onset was 3 months (range 2-6). Five patients presented with focal seizures evolving to infantile epileptic spasms syndrome (IESS), while two had IESS at onset. Epilepsy was drug-resistant in all. Developmental delay was evident from birth with generalized hypotonia, acquired microcephaly, and impaired visual attention. Four patients had dysmorphic features. During the IESS period, EEG showed hypsarrhythmia in six patients and a severely disorganized encephalopathic background that did not strictly fulfill the criteria for hypsarrhythmia in one. Brain MRI revealed abnormalities in all patients, including frontotemporal atrophy and corpus callosum hypoplasia; delayed myelination was observed in one case. Eight pathogenic/likely pathogenic WWOX variants were found; including one novel variant (NM_016373.4:c.571C>T, p.(Gln191*)). The recurrent splice-site variant NM_016373.4:c.107+1G>A was identified in five patients, suggesting a possible regional founder effect.
CONCLUSION
WOREE shows a recognizable electroclinical and neuroimaging profile with early drug-resistant epilepsy and profound developmental delay. Recognition of this pattern may facilitate early diagnosis and targeted genetic testing, particularly in populations with recurrent variants.
Jose Guevara, M. Touzon, Sara Negrete et al.· Seizure· 0 citations
An overview of the literature and clinical cases of epilepsy in Down syndrome (DS) is presented. Epilepsy in DS has a bimodal distribution with two peaks: before 5 years of age and after 40 years. In childhood, the most common epileptic syndrome is infantile epileptic spasms syndrome. First-line treatment includes vigabatrin and corticosteroids.
The second peak of epilepsy occurs after the age of 40 and is associated with the coexistence of epilepsy and Alzheimer’s disease, which is known as late-onset myoclonic epilepsy in DS, the seizure semiology of which is similar to that of juvenile myoclonic epilepsy.
Clinical cases of patients with infantile epileptic spasms syndrome and DS successfully treated with vigabatrin are presented. Comorbidities in DS include a high prevalence of obstructive sleep apnea syndrome, increased carbonic anhydrase type 2 activity, and the presence of myoclonic seizures similar to those in juvenile myoclonic epilepsy. These features support the use of sultiame as a pathogenetically justified drug for the treatment of epilepsy in patients with AD.
A clinical case of a patient with DS is presented, in whom sultiame demonstrated high efficacy and good tolerability, as well as a positive impact on development and behavior
M. Bobylova, S. Burd, T. R. Tomenko et al.· Russian Journal of Child Neu...· 0 citations
Early-onset epilepsy in infancy exhibits heterogeneous features and the ILAE framework facilitates a systematic diagnostic approach and supports clinical management in pediatric patients.
Background and Objectives Enzyme replacement therapy has not only significantly improved motor outcome and survival in patients with classic infantile Pompe disease, but also revealed previously unrecognized central nervous system (CNS) involvement. In this international study, involving patients from the Netherlands, Italy, Argentina, Germany, the United Kingdom, and Taiwan, we investigated whether epilepsy should be considered part of the CNS phenotype. Methods We included patients with classic infantile Pompe disease, defined by the presence of hypertrophic cardiomyopathy, symptom onset < 6 months of age, complete acid α-glucosidase (GAA) deficiency, and/or 2 severe variants in the GAA gene, who developed epilepsy. Data on epilepsy characteristics, electroencephalogram (EEG), cognitive testing, serum neurofilament light chain (NfL), and brain magnetic resonance imaging (MRI) were retrospectively collected. Results Seventeen patients from 10 centers were identified. The median follow-up duration was 13.7 years (range 3.3–19). Seven patients had deceased at the time of analysis. The median age at first seizure was 11.5 years (range 2.5–17.5). Seizure semiology was variable: six patients experienced generalized tonic-clonic seizures and 3 focal seizures with impaired consciousness only; 6 had multiple seizure types, and 7 experienced seizures during fever or infection. Seizure frequency varied considerably (in 9 occasionally, 5 monthly, 2 weekly, 1 daily). The most common EEG findings were a slowed background activity and focal epileptiform discharges, not substantially activated by sleep. Levetiracetam was most frequently used as antiseizure medication. Overall, 70% of patients became seizure-free. Serum NfL was elevated in all 6 patients in whom it was measured, and 8 of 10 patients had an intelligence quotient ≤66 at onset of epilepsy. Although brain MRI was not always performed at the age of first seizure, 14 of 15 patients showed white matter abnormalities, which were extensive in 11 of 14 (score ≥7/12). Brain atrophy was present in 9 cases and calcifications in 4. Discussion Our findings suggest a potential increased frequency of seizures in classic infantile Pompe disease in comparison with unaffected children, occurring predominantly after the age of 7, and that epilepsy is part of the CNS phenotype. The risk of seizures should be evaluated during follow-up in long-term survivors with classic infantile Pompe disease.
M. C. Faraguna, Alexander Broomfield, S. Gasperini et al.· Neurology: Genetics· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
