The genetic landscape of the epileptic encephalopathies of infancy and childhood

A McTague, KB Howell, JH Cross, MA Kurian… - The Lancet …, 2016 - thelancet.com
Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

Cognitive impairment in epilepsy: the role of network abnormalities

GL Holmes - Epileptic Disorders, 2015 - Wiley Online Library
The challenges to individuals with epilepsy extend far beyond the seizures. Co‐morbidities
in epilepsy are very common and are often more problematic to individuals than the seizures …

Cognitive and neurodevelopmental comorbidities in paediatric epilepsy

KC Nickels, MJ Zaccariello, LD Hamiwka… - Nature Reviews …, 2016 - nature.com
Cognitive and behavioural comorbidities are often seen in children with epilepsy, and are
more common and severe in refractory epilepsy. These comorbidities are associated with …

Sodium channelopathies of skeletal muscle and brain

M Mantegazza, S Cestèle… - Physiological …, 2021 - journals.physiology.org
Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

Calcium channelopathies and intellectual disability: a systematic review

M Kessi, B Chen, J Peng, F Yan, L Yang… - Orphanet journal of rare …, 2021 - Springer
Background Calcium ions are involved in several human cellular processes including
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …

Dravet syndrome: diagnosis and long-term course

MB Connolly - Canadian Journal of Neurological Sciences, 2016 - cambridge.org
Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it
comes with very high morbidity and mortality. The typical presentation is characterized by …

Upregulation of haploinsufficient gene expression in the brain by targeting a long non-coding RNA improves seizure phenotype in a model of Dravet syndrome

J Hsiao, TY Yuan, MS Tsai, CY Lu, YC Lin, ML Lee… - …, 2016 - thelancet.com
Dravet syndrome is a devastating genetic brain disorder caused by heterozygous loss-of-
function mutation in the voltage-gated sodium channel gene SCN1A. There are currently no …

SCN1A/NaV1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models

M Mantegazza, V Broccoli - Epilepsia, 2019 - Wiley Online Library
Summary Pathogenic SCN 1A/NaV1. 1 mutations cause well‐defined epilepsies, including
genetic epilepsy with febrile seizures plus (GEFS+) and the severe epileptic encephalopathy …

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

JL Wagnon, MJ Korn, R Parent… - Human molecular …, 2015 - academic.oup.com
De novo mutations of the voltage-gated sodium channel gene SCN8A have recently been
recognized as a cause of epileptic encephalopathy, which is characterized by refractory …

Tau reduction prevents disease in a mouse model of D ravet syndrome

AL Gheyara, R Ponnusamy, B Djukic… - Annals of …, 2014 - Wiley Online Library
Objective Reducing levels of the microtubule‐associated protein tau has shown promise as
a potential treatment strategy for diseases with secondary epileptic features such as …