L. Blumkin

发表

Clinical Correlates of Occipital Intermittent Rhythmic Delta Activity (OIRDA) in Children

T. Lerman-Sagie, N. Watemberg, Ilan Linder, 2007, Epilepsia.

Clinical phenotypes of infantile onset CACNA1A-related disorder.

E. Bertini, D. Lev, B. Pode-Shakked, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

D. Lev, N. Matsumoto, M. Shiina, 2015, Epilepsia.

Rituximab, IVIg, and Tetracosactide (ACTH1–24) Combination Immunotherapy (“RITE-CI”) for Pediatric Opsoclonus-Myoclonus Syndrome: Immunomarkers and Clinical Observations

M. Pranzatelli, M. Alber, L. Blumkin, 2017, Neuropediatrics.

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

E. Leshinsky‐Silver, D. Lev, M. Knaap, 2014, neurogenetics.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

E. Leshinsky‐Silver, D. Lev, N. Matsumoto, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

D. Lev, E. Sherr, T. Lerman-Sagie, 2021, Journal of human genetics.

Multiple Causes of Pediatric Early Onset Chorea—Clinical and Genetic Approach

D. Lev, H. Ben-Pazi, T. Lerman-Sagie, 2018, Neuropediatrics.

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

D. Lev, W. Dobyns, L. Ben‐Sira, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

R. Pfundt, E. Kossoff, E. Leshinsky‐Silver, 2016, Epilepsia.

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2010, Journal of child neurology.

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2013, JIMD reports.

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2011, Journal of the Neurological Sciences.

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

E. Leshinsky‐Silver, D. Lev, A. Suls, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Costeff syndrome: clinical features and natural history

D. Lev, A. Schweiger, B. Pode-Shakked, 2014, Journal of Neurology.

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Paroxysmal torticollis of infancy: a benign phenomenon?

L. Blumkin, 2018, Developmental medicine and child neurology.

Reply to: The many faces of TUBB4A mutations

E. Leshinsky‐Silver, D. Lev, M. S. van der Knaap, 2014, neurogenetics.

Familial leukoencephalopathy with slowly progressive dystonia and ataxia.

H. Mandel, D. Lev, T. Lerman-Sagie, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Acquired ataxias, infectious and para-infectious.

M. Pranzatelli, L. Blumkin, 2012, Handbook of clinical neurology.

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2016, Journal of child neurology.

Pediatric Refractory Partial Status Epilepticus Responsive to Topiramate

T. Lerman-Sagie, N. Watemberg, L. Blumkin, 2005, Journal of child neurology.

Metabolic stroke in a patient with bi-allelic OPA1 mutations

D. Lev, L. Ben‐Sira, T. Lerman-Sagie, 2019, Metabolic Brain Disease.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

E. Bertini, G. Vasco, C. Catsman-Berrevoets, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Congenital Mirror Movements Associated With Brain Malformations

D. Lev, T. Lerman-Sagie, L. Blumkin, 2021, Journal of child neurology.

Brain white matter abnormalities associated with copy number variants

A. Vanderver, D. Lev, L. Ben‐Sira, 2020, American journal of medical genetics. Part A.

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

D. Lev, T. Lerman-Sagie, N. Watemberg, 2007, Movement disorders : official journal of the Movement Disorder Society.

Nonprogressive Familial Leukoencephalopathy With Porencephalic Cyst and Focal Seizures

D. Lev, B. Ben-Zeev, T. Lerman-Sagie, 2006, Journal of child neurology.

Neurologic Involvement in a Child With Systemic Capillary Leak Syndrome

T. Lerman-Sagie, I. Cohen, L. Blumkin, 2010, Pediatrics.

Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum

D. Lev, S. Constantini, T. Lerman-Sagie, 2019, Journal of child neurology.

Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter.

B. Attali, B. Ben-Zeev, G. Heimer, 2021, Epileptic disorders : international epilepsy journal with videotape.

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival

D. Lev, L. Ben‐Sira, T. Lerman-Sagie, 2020, neurogenetics.

Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders

T. Lerman-Sagie, Ilan Linder, L. Blumkin, 2018, Journal of child neurology.

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

E. Leshinsky‐Silver, D. Lev, S. Zuberi, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

E. Leshinsky‐Silver, D. Lev, N. Matsumoto, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Refining the phenotype of the THG1L (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia

D. Lev, K. Swoboda, T. Lerman-Sagie, 2019, American journal of medical genetics. Part A.

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.

D. Lev, T. Lerman-Sagie, L. Blumkin, 2020, European journal of medical genetics.

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

E. Leshinsky‐Silver, D. Lev, M. Henneke, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

P. Bauer, L. Schöls, E. Leshinsky‐Silver, 2012, neurogenetics.

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

K. Bhatia, D. Lev, W. Dobyns, 2020, American journal of medical genetics. Part A.

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

D. Lev, E. Sherr, T. Lerman-Sagie, 2021, Journal of Human Genetics.

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

E. Leshinsky‐Silver, D. Lev, M. Knaap, 2014, neurogenetics.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Human Mutation

A. Vanderver, H. Brunner, P. Fockens, 2019 .

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.

D. Lev, N. Matsumoto, H. Saitsu, 2020, European journal of medical genetics.

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

E. Leshinsky‐Silver, D. Lev, Y. Anikster, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2012, Journal of Neurology.

The Neuropsychological profile of patients with 3‐Methylglutaconic aciduria type III, Costeff syndrome

D. Lev, A. Schweiger, Y. Anikster, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.