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An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies.
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- Child's Nervous System, 2021, v. 37, n. 12, p. 3827, doi. 10.1007/s00381-021-05348-9
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- Article
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.
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- Human Genetics, 2002, v. 111, n. 2, p. 214, doi. 10.1007/s00439-002-0770-y
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- Article
Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.
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- European Journal of Pediatrics, 2024, v. 183, n. 9, p. 4085, doi. 10.1007/s00431-024-05668-3
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- Article
Medical Cannabis for Intractable Epilepsy in Childhood: A Review.
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- Rambam Maimonides Medical Journal, 2020, v. 11, n. 1, p. 1, doi. 10.5041/RMMJ.10387
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- Article
Memory, Executive Skills, and Psychosocial Phenotype in Children with Pharmacoresponsive Epilepsy: Reactivity to Intervention.
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- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00086
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- Article
Dietary-Induced Ketogenesis: Adults Are Not Children.
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- Nutrients, 2021, v. 13, n. 9, p. 3093, doi. 10.3390/nu13093093
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- Article
Electroencephalography for children with autistic spectrum disorder: a sedation protocol.
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- Pediatric Anesthesia, 2015, v. 25, n. 2, p. 200, doi. 10.1111/pan.12510
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- Article
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
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- Science Translational Medicine, 2021, v. 13, n. 609, p. 1, doi. 10.1126/scitranslmed.aaz4957
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- Article
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1074, doi. 10.1038/ejhg.2012.305
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- Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
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- 2017
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- Publication type:
- journal article
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
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- 2017
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- Publication type:
- journal article
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
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- 2020
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- Publication type:
- journal article
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties.
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- 2017
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- Publication type:
- journal article
Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 17, p. 4130, doi. 10.3390/ijms20174130
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- Article
Lisdexamfetamine Therapy in Paroxysmal Non‐kinesigenic Dyskinesia Associated with the KCNMA1‐N999S Variant.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 229, doi. 10.1002/mdc3.13394
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- Article
Analysis of the Phenotypes in the Rett Networked Database.
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- International Journal of Genomics, 2019, p. 1, doi. 10.1155/2019/6956934
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- Publication type:
- Article
Expanding the MECP2 network using comparative genomics reveals potential therapeutic targets for Rett syndrome.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.67085
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- Publication type:
- Article
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 343, doi. 10.1038/ejhg.2012.157
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- Article
The phenotype associated with a large deletion on MECP2.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 921, doi. 10.1038/ejhg.2012.34
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- Article
Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research.
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- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00434
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- Article
The Israeli Retrospective Multicenter Open-Label Study Evaluating Vagus Nerve Stimulation Efficacy in Children and Adults.
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- Israel Medical Association Journal, 2013, v. 15, n. 11, p. 673
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- Publication type:
- Article
Multiple Sclerosis in Israeli Children: Incidence, and Clinical, Cerebrospinal Fluid and Magnetic Resonance Imaging Findings.
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- Israel Medical Association Journal, 2012, v. 14, n. 4, p. 234
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- Publication type:
- Article
Short Stature and Distinct Growth Characteristics in Angelman Syndrome.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 334, doi. 10.1159/000534612
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- Publication type:
- Article
Costeff syndrome: clinical features and natural history.
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- Journal of Neurology, 2014, v. 261, n. 12, p. 2275, doi. 10.1007/s00415-014-7481-x
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- Publication type:
- Article
Felbamate for pediatric epilepsy--should we keep on using it as the last resort?
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.979725
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- Publication type:
- Article
Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations.
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- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020733
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- Article
Unusual Presentation of Familial Glucocorticoid Deficiency with a Novel MRAP Mutation.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 10, p. 3713, doi. 10.1210/jc.2006-0687
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- Article
Treating Epilepsy Patients with Investigational Anti-COVID-19 Drugs: Recommendations by the Israeli Chapter of the ILAE.
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- Israel Medical Association Journal, 2020, v. 22, n. 11, p. 665
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- Publication type:
- Article
Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.
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- Neuroradiology, 2022, v. 64, n. 3, p. 611, doi. 10.1007/s00234-021-02789-6
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- Article
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
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- Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.1018062
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- Article
Vici syndrome in Israel: Clinical and molecular insights.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.991721
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- Publication type:
- Article
Transient Oromotor Deficits in Children with Benign Childhood Epilepsy with Central Temporal Spikes.
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- Epilepsia (Series 4), 2001, v. 42, n. 5, p. 616, doi. 10.1046/j.1528-1157.2001.28700.x
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- Article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
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- Article
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98646-w
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- Article
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2469, doi. 10.1002/ajmg.a.33829
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- Article
Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures.
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- 2000
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- Publication type:
- journal article
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 Hemispherotomy.
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- Clinical & Developmental Immunology, 2004, v. 11, n. 3/4, p. 241, doi. 10.1080/17402520400001736
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- Article
MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
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- Human Mutation, 2002, v. 20, n. 4, p. 323, doi. 10.1002/humu.9069
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- Article
Epilepsy and behavioral changes, type 1 diabetes mellitus and a high titer of glutamic acid decarboxylase antibodies.
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- Pediatric Diabetes, 2016, v. 17, n. 8, p. 617, doi. 10.1111/pedi.12346
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- Article
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.
- Published in:
- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211901
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- Article
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia.
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- Human Mutation, 2020, v. 41, n. 2, p. 476, doi. 10.1002/humu.23945
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- Publication type:
- Article
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
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- Publication type:
- Article
Rett networked database: An integrated clinical and genetic network of rett syndrome databases.
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- Human Mutation, 2012, v. 33, n. 7, p. 1031, doi. 10.1002/humu.22072
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- Publication type:
- Article
Severe classical congenital muscular dystrophy and merosin expression.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 3, p. 193, doi. 10.1111/j.1399-0004.1998.tb04283.x
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- Publication type:
- Article
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
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- Muscle & Nerve, 2004, v. 29, n. 1, p. 66, doi. 10.1002/mus.10500
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- Publication type:
- Article
Rare copy number variants are an important cause of epileptic encephalopathies.
- Published in:
- Annals of Neurology, 2011, v. 70, n. 6, p. 974, doi. 10.1002/ana.22645
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- Publication type:
- Article
Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Infants, Children, and Adolescents with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 7, p. 1938, doi. 10.1111/epi.17976
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- Publication type:
- Article
Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Adults with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 7, p. 1916, doi. 10.1111/epi.17971
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- Publication type:
- Article
Using nirmatrelvir/ritonavir in patients with epilepsy: An update from the Israeli chapter of the International League Against Epilepsy.
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- Epilepsia (Series 4), 2022, v. 63, n. 5, p. 1276, doi. 10.1111/epi.17212
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- Publication type:
- Article
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 3, p. 436, doi. 10.1111/epi.13676
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- Publication type:
- Article