ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
نویسندگان
چکیده
منابع مشابه
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disease associated with mutations of ASAH1 gene, which encodes N-acylsphingosine amidohydrolase 1 [1]. It is characterized by progressive proximal muscle weakness due to anterior horn cell degeneration, followed by myoclonic seizures and cognitive decline [1]. Age of onset can range from childhoo...
متن کاملJuvenile myoclonic epilepsy: A clinical and sleep EEG study
Juvenile myoclonic epilepsy (JME) is characterized by myoclonic jerks on awakening, generalized tonic--clonic seizures (GTCS) and is associated with absence seizures in more than one third of cases. Fifteen patients with juvenile myoclonic epilepsy were studied with regard to their clinical profile, EEG data and sleep EEG findings. There was a delay in the diagnosis of JME (mean of 3.5 years) d...
متن کاملClinical genetic study in juvenile myoclonic epilepsy
PURPOSE To evaluate clinical features of probands with juvenile myoclonic epilepsy (JME) and affected members of their families in order to study clinical genetics of JME. METHOD Thirteen unrelated families with at least two members with history of seizures were identified; clinical and genealogic data were collected from JME probands and family members. RESULTS All probands had myoclonic a...
متن کامل[Reflex myoclonic epilepsy in infancy: a new reflex epilepsy syndrome or a variant of benign myoclonic epilepsy in infancy].
CASE REPORTS We report a clinical and EEG study of 8 children with reflex myoclonic epilepsy of infancy to further confirm the existence of this syndrome first described by Ricci et al in 1995. RESULTS Between February 1990 to July 2002, we identified 64 epileptic patients with myoclonic seizures with an onset in the first six years of life. Eight (12.5%) of these patients had myoclonic seizu...
متن کاملA recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
BACKGROUND Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations to guide clinicians to th...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2016
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.28