Genetic testing for the epilepsies: a systematic review

BR Sheidley, J Malinowski, AL Bergner, L Bier… - …, 2022 - Wiley Online Library
Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Neurophysiological findings in neuronal ceroid lipofuscinoses

M Trivisano, A Ferretti, C Calabrese… - Frontiers in …, 2022 - frontiersin.org
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative
diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder …

A multi-disciplinary team approach to genomic testing for drug-resistant epilepsy patients—the GENIE study

L Vadlamudi, CM Bennett, M Tom… - Journal of Clinical …, 2022 - mdpi.com
Background. The genomic era has led to enormous progress in clinical care and a multi-
disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy …

Next-generation sequencing technologies and neurogenetic diseases

H Sun, XR Shen, ZB Fang, ZZ Jiang, XJ Wei, ZY Wang… - Life, 2021 - mdpi.com
Next-generation sequencing (NGS) technology has led to great advances in understanding
the causes of Mendelian and complex neurological diseases. Owing to the complexity of …

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

K Gall, E Izzo, EH Seppälä, K Alakurtti, L Koskinen… - PLoS …, 2021 - journals.plos.org
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic
etiology. Genetic diagnosis provides potential for etiologically-based management and …

Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications

DC Brock, M Abbott, L Reed, R Kammeyer, M Gibbons… - Epilepsy Research, 2023 - Elsevier
Objective There has been increasing utilization of genetic testing for pediatric epilepsy in
recent years. Little systematic data is available examining how practice changes have …

Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway

I Stenshorne, M Syvertsen, A Ramm-Pettersen… - Frontiers in …, 2022 - frontiersin.org
Introduction Developmental and epileptic encephalopathies (DEE) is a group of epilepsies
where the epileptic activity, seizures and the underlying neurobiology contributes to …

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies

M Mazurkiewicz-Bełdzińska, M Del Toro… - Expert Review of …, 2021 - Taylor & Francis
Introduction Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric
neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of …

[HTML][HTML] Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?

A Aledo-Serrano, R Sánchez-Alcudia… - Journal of …, 2021 - oaepublish.com
The redefinition of classical electroclinical syndromes and the emergence of neurogenetics
has led to a revolution in the field of developmental and epileptic encephalopathies (DEEs) …

Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update

T Baranzehi, DM Kordi-Tamandani, M Najafi… - Journal of Clinical …, 2022 - mdpi.com
Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is
caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and …