We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting
with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 …

Introduction: Epileptic disorders are a heterogeneous group of medical conditions with epilepsy
as the common denominator. Genetic causes, electro-clinical features, and management …

Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …

Objective: To define the clinical and EEG features of the epileptic syndromes occurring in
adult and infantile mitochondrial encephalopathies (ME). Methods: Thirty-one patients with …

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na + channel …

The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for
most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been …

The Hyperpolarization-activated Cyclic Nucleotide-gated (HCN) channels are highly expressed
in the Central Nervous Systems, where they are responsible for the I h current. Together …

… Canafoglia conceived the study, clinically evaluated the patients, discussed the results,
and drafted and revised the manuscript. Dr. Robbiano performed genetic examinations and …

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually
from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. …