"Epilepsy" search results...

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

MPS

Significant neuropsychiatric symptoms: Three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

2021-08-16

Diagnosis of MPS type IIIB should be remembered in cases presenting with neurodevelopmental and neuropsychiatric problems.

CLN2

Unraveling neuronal ceroid lipofuscinosis type 2

2021-06-04

In this study, the majority of the patients presented with late-infantile onset seizures. Despite improved access to enzymatic and molecular testing, there is still a significant diagnostic delay

CLN2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

2021-04-21

The guidelines in this study provide solid evidence-based and expert-agreed advice on the risks/benefits of disease-modifying treatments and medical procedures used for the management of patients with CLN2 disease and other neurodegenerative diseases.

CLN2

Neuronal ceroid lipofuscinosis type 2: An Australian case series

2020-04-24

This article aims to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

MPS

Significant neuropsychiatric symptoms: Three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

CLN2

Unraveling neuronal ceroid lipofuscinosis type 2

CLN2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

CLN2

Neuronal ceroid lipofuscinosis type 2: An Australian case series

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