Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in
seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). …

Distal hereditary motor neuropathies are pure motor disorders of the peripheral nervous
system resulting in severe atrophy and wasting of distal limb muscles 1 . In two pedigrees with …

Background Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)
are extremes of a clinically, pathologically, and genetically overlapping disease spectrum…

Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960)
is a heterogeneous group of disorders characterized by an almost exclusive degeneration …

Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients.
The disease is characterized by generalized tonic, clonic, and tonic-clonic seizures that …

Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile
amyotrophic lateral sclerosis (ALS) characterized by distal muscle weakness and atrophy, …

Background Charcot‐Marie‐Tooth disease (CMT) comprises a large variety of different
forms of motor and sensory neuropathies. The most frequent are demyelinating forms (CMT1) …

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of
peripheral neuropathies. Different chromosomal loci have been linked with three autosomal …

The genetic generalized epilepsies ( GGEs ) are mainly genetically determined disorders.
Although inheritance in most cases appears to be complex, involving multiple genes, variants …