about
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesAssessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disordersShort-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originPyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay SachsDeficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.White matter involvement in mitochondrial diseases.Malformations of Cortical Development: From Postnatal to Fetal Imaging.Fatal outcome following foetal cerebellar haemorrhage associated with placental thrombosis.The fetal cerebellum. Pitfalls in diagnosis and management.Imaging of fetal cytomegalovirus infection.GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletionsClinical experience with open-label topiramate use in infants younger than 2 years of age.Rare copy number variants are an important cause of epileptic encephalopathies.Should autistic children be evaluated for mitochondrial disorders?Adverse reactions of Topiramate and Lamotrigine in children.Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.Clinical correlates of occipital intermittent rhythmic delta activity (OIRDA) in children.Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomyPrimary disorders of metabolism and disturbed fetal brain development.Glycogen storage disease type III in Israel: presentation and long-term outcome.Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.Recurrent absence status epilepticus (spike-and-wave stupor) associated with lamotrigine therapy.Severe refractory status epilepticus owing to presumed encephalitis.Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.Congenital cytomegalovirus infection presenting as an apparent neurodegenerative disorder.Significance of microcephaly among children with developmental disabilities.RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
P50
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P50
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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Tally Lerman-Sagie
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