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OBJECTIVES SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS All patients fulfilled the criteria for SMEI. The authors analyzed(More)
BACKGROUND IgM-related neuropathy generally presents as a late-onset demyelinating polyneuropathy with predominant sensory loss and ataxia. Sporadic cases with atypical presentation have been described. PATIENTS AND METHODS We report clinical and pathological findings from 31 patients with IgM-related neuropathy followed in our Institute of Neurology over(More)
Idiopathic epilepsies (IEs) are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. We previously described a large family(More)
INTRODUCTION To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome). PATIENTS AND METHODS Alpha-subunit type A of voltage-gated sodium channel (SCN1A) mutational screening was performed by denaturing high-performance liquid chromatography(More)
Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated alpha-1 sodium channel subunit-SCN1A-have been identified as a common cause of SMEI. Moreover, a mutation in the gene encoding the gamma2 subunit of the GABA(A) receptor-GABRG2-has been described in a GEFS+(More)
Myoclonus has different clinical and neurophysiological features in patients with Unverricht-Lundborg (ULD) and Lafora body disease (LBD), probably because of a different cortical hyperexcitability profile. To investigate the role of intracortical inhibition in such different presentations, we used paired-pulse transcranial magnetic stimulation (TMS) in ten(More)
Benign adult familial myoclonic epilepsy (BAFME or FAME) is an autosomal dominant condition, characterized by shivering-like tremors of cortical origin, myoclonus, and epilepsy. Linkage to chromosomes 2p11.1-q12.2 and 8q23.1-q24.11 has been reported in Japanese and Italian families, respectively. We aimed to determine whether a common founder haplotype was(More)
We report a five-generation family showing cortical tremor, myoclonus, and epilepsy, originating from Naples, Italy. Eleven members, aged 24-56 years (mean: 39.2 years), suffered from hand tremor and myoclonus, whereas generalized seizures occurred in six. Electrophysiological study confirmed the presence of cortical reflex myoclonus in all affected(More)
We describe a patient with a familial form of amyotrophic lateral sclerosis (ALS) in which a heterozygous G > A exchange at position 1087 in the SOD1 gene was detected. This mutation results in an amino acid substitution of aspartate for glycine at position 93 (G93D). The patient had a five-year history of fasciculations in all four limbs, with no clear(More)
We describe four patients affected by chronic inflammatory demyelinating polyneuropathy (CIDP) in a pure motor form. Selective involvement of motor fibers was suggested by the absence of sensory symptoms, normal sensation at neurological examination and normal findings on electrophysiological testing of sensory fibres and sural nerve biopsy. The onset of(More)