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Neonatal status epilepticus vs recurrent neonatal seizures
TLDR
Newborns with status epilepticus are at high risk of severe neurologic disability and postneonatal epilepsy, particularly evident in early preterm and full-term infants. Expand
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation
TLDR
A new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy in a 4-year-old girl resembling diplegic cerebral palsy is reported. Expand
Idiopathic stabbing headache: clinical characteristics of children and adolescents
TLDR
A group of patients in the pediatric age group with short attacks of head pain are described to demonstrate that they are not easily classified according to existing criteria for adults and to propose follow-up of these subjects to obtain a better description of the natural history of these forms of headache. Expand
Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea.
TLDR
The data showed that high dose of methylprednisolone intravenously followed by deflazacort therapy may be effective and well-tolerated in children with severe paralytic form of Sydenham's chorea. Expand
Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient
TLDR
Data confirm that altered gating properties of connexin 32 could give rise to acute, transient central and peripheral nervous system symptoms in situations of metabolic stress. Expand
Neonatal seizures and postneonatal epilepsy: a 7-y follow-up study
TLDR
Neonatal seizures seem to be related to postneonatal epilepsy, which may act on an epileptogenic substrate, causing further damage, which is responsible for the subsequent clinical expression of epilepsy. Expand
New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene
TLDR
It is recommended that in newborns with stiffness, peripheral contractures and myotonia, the sequence analysis of SCN4A gene should be performed. Expand
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
TLDR
In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy. Expand
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
TLDR
A nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus is described. Expand
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