Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep

Article Clinical Neurology

Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L

Ali Mir et al.

Summary: Biallelic pathogenic variants in the FRRS1L gene can cause developmental and epileptic encephalopathy-37 (DEE37) and may be associated with CSWS. Developmental regression was common in DEE37 patients, with an early onset of seizures. ESES on EEG was predominantly observed in older patients, while hypsarrhythmia was more common in younger patients. Recognition of ESES and the natural evolution of CSWS is crucial for accurate diagnosis and management.

CLINICAL EEG AND NEUROSCIENCE (2023)

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Article Clinical Neurology

The genetic landscape of developmental and epileptic encephalopathy with spike-and-wave activation in sleep

Alexander E. Freibauer et al.

Summary: Objective: To review the literature on the genetic landscape of Epileptic Encephalopathy / Developmental Epileptic Encephalopathy with spike-and-wave activation in sleep (EE/DEE-SWAS). Methods: A systematic review was conducted to identify cases of EE/DEE-SWAS associated with a genetic cause, collecting information on aetiology, onset, management, and EEG patterns. Results: 172 cases of EE/DEE-SWAS were identified, with genetic causes including pathogenic variants in GRIN2A, ZEB2, CNKSR2, and chromosome 17q21.31 deletions. Factors suggesting a potential genetic cause included early onset of SWAS and presentation of DEE-SWAS. Treatment was diverse and lacked consensus. Conclusions: Uniformity in the definition of EE/DEE-SWAS, management guidelines, and increased genetic screening are needed to guide treatment.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2023)

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Article Clinical Neurology

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

Nicola Specchio et al.

Summary: The 2017 International League Against Epilepsy classification defines a three-tier system for epilepsy syndromes, with childhood onset epilepsy syndromes falling into three categories: self-limited focal epilepsies, generalized epilepsies, and developmental and/or epileptic encephalopathies. Identification of specific syndromes helps guide management and prognosis. This paper describes these childhood onset epilepsy syndromes, highlighting their seizure types, EEG features, phenotypic variations, and key investigation findings.

EPILEPSIA (2022)

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Article Clinical Neurology

Spike-Wave Index Assessment and Electro-Clinical Correlation in Patients with Encephalopathy Associated with Epileptic State During Slow Sleep (ESES / CSWS); Single-Center Experience

Ulkuhan Oztoprak et al.

Summary: This study aimed to describe the electroclinical spectrum and neurocognitive outcome in children with ESES. The results showed that non-typical ESES patterns were more common, and half of the patients had favorable neurocognitive outcomes. Unfavorable outcomes were associated with long duration and early-onset epileptic activity, as well as etiology.

EPILEPSY RESEARCH (2021)

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Article Genetics & Heredity