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PubMed
Gene variants in periventricular nodular heterotopia -
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development (MCD) mainly caused by aberrant neuronal migration, and a group of diseases sharing similar pathological manifestations, including the presence of nodular clusters of abnormal neurons in the subependymal region. PVNH is one of major causes that result in genetic epilepsy. Seizures can strike as early as a few d...
CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine -
CONCLUSIONS: This pedigree supports Cav2.1 loss-of-function presenting with epilepsy, EA2, and FHM features plus BPPV. Within this family, clinical expression to date appears female-skewed while male carriers remained asymptomatic at last follow-up; this observation is hypothesis-generating. Mechanism-aware ASM selection and structured family counselling may aid management; larger cohorts and f...
Clinical features, risk factors and outcomes of hydrocephalus in neonatal bacterial meningitis: a retrospective case-control study -
Hydrocephalus is a potentially life-threatening complication of neonatal bacterial meningitis (BM), with a poor prognosis. A retrospective case-control study was conducted among 227 newborns with BM, with and without hydrocephalus, from three centers between 2018 and 2024 to compare their demographic and clinical characteristics, explore outcomes, and analyze risk factors for hydrocephalus. Esc...
IFCN position statement: use of artificial intelligence in clinical neurophysiology -
In recent years, artificial intelligence (AI) has made significant strides, gaining traction across various domains, including clinical medicine. The integration of AI as a decision-support tool introduces complexities, particularly in ensuring patient safety and upholding clinical accountability. This is especially pertinent in clinical neurophysiology (CNP), where AI shows promise in enhancin...
Sleep quality in children with epilepsy and their mothers: A cross-sectional study -
CONCLUSION: It was found that children with epilepsy experienced sleep problems related to bedtime resistance and daytime sleepiness, and that their mothers had poor sleep quality. Therefore, the development of supportive intervention programs is recommended to prevent and manage sleep problems in children with epilepsy and their mothers.
Post-Ictal aphasia in focal Epilepsy: Speech-language pathologist Perspectives and insights -
CONCLUSION: The likelihood of detecting P-IA increases with comprehensive post-ictal language testing. P-IA in current study showed no clear lateralizing value. The contralateral spread of seizure was the most relevant finding correlated with P-IA. More than four post-ictal language deficits were correlated with onset in the temporal lobe.
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