Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous
neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell …

We studied genotype‐phenotype correlations in a group of 100 patients with typical
Friedreich ataxia (FRDA), and in three groups of patients with atypical clinical presentations, …

Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS)
patients in the TARDBP gene encoding TAR DNA binding protein (TDP)‐43, the major protein …

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 …

Background Mutations in the FUS gene have recently been discovered to be a major cause
of familial amyotrophic lateral sclerosis (FALS). Objective To determine the identity and …

Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders,
clinically classified in pure and complex forms. Genetically, more than 70 different forms of …

Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided
novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. …

Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal
excitability and their dysfunction has been linked to epileptogenesis but few individuals with …