Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review

Review Endocrinology & Metabolism

The Spectrum of the Prader-Willi-like Pheno-and Genotype: A Review of the Literature

Alicia F. Juriaans et al.

Summary: Prader-Willi-like (PWL) is a rare genetic syndrome that is poorly defined and potentially affects a significant number of children and adults. Research has described the phenotype and genotype of many PWL patients, proposing individualized treatment and diagnostic approaches.

ENDOCRINE REVIEWS (2022)

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Article Genetics & Heredity

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Jacob R. Stolz et al.

Summary: Variants in the GRIK2 gene can lead to a neurodevelopmental disorder characterized by intellectual disability and developmental delay, with different outcomes depending on mono-allelic or bi-allelic effects. Shared GRIK2 variants among patients are associated with overlapping behavioral and neurological dysfunctions, indicating the pathogenic nature of these mutations. Functional studies on mutant GRIK2 variants in Kainate receptors reveal complex effects on receptor properties and contribute to a better understanding of the role of KARs in early nervous system development.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Neurosciences

EEG Patterns in Patients with Prader-Willi Syndrome

Maurizio Elia et al.

Summary: Interictal paroxysmal EEG abnormalities, particularly with bilateral middle-posterior localization, could be an important neurological feature of PWS not associated with genotype, cognitive or behavioral endophenotypes, MRI anomalies, or prognosis.

BRAIN SCIENCES (2021)

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Article Clinical Neurology