S. Kivity

发表

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2017, Neurology.

Phenotypic analysis of 303 multiplex families with common epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2017, Brain : a journal of neurology.

Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families

I. Scheffer, S. Berkovic, A. Korczyn, 2004, Epilepsia.

Selective Mutism and Abnormal Electroencephalography (EEG) Tracings

A. Shuper, S. Kivity, H. Goldberg-Stern, 2011, Journal of child neurology.

Multiplex families with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Benign focal epilepsy of childhood. A follow-up study of 100 recovered patients.

P. Lerman, S. Kivity, 1975, Archives of neurology.

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.

Congenital Hydrocephalus and Continuous Spike Wave in Slow-Wave Sleep—A Common Association?

B. Ben-Zeev, U. Kramer, N. Watemberg, 2004, Journal of child neurology.

Effect of Early Corticosteroid Therapy for Landau‐Kleffner Syndrome

T. Lerman-Sagie, P. Lerman, S. Kivity, 1991, Developmental medicine and child neurology.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

J. Shendure, G. Carvill, I. Scheffer, 2013, Nature Genetics.

Reversible cortical atrophy and cognitive decline induced by valproic acid.

N. Gadoth, R. Weitz, L. Harel, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

E. Leshinsky‐Silver, D. Lev, A. Frumkin, 2012, American journal of medical genetics. Part A.

Long‐term Cognitive Outcomes of a Cohort of Children with Cryptogenic Infantile Spasms Treated with High‐dose Adrenocorticotropic Hormone

S. Shinnar, P. Lerman, S. Kivity, 2004, Epilepsia.

The benign partial nonrolandic epilepsies.

P. Lerman, S. Kivity, 1991, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

The mystery of electroencephalography in acute lymphoblastic leukemia

L. Pollak, I. Yaniv, A. Shuper, 2011, Seizure.

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

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

Toward Routine Genetics-Based Diagnoses for the Epileptic Encephalopathies

K. Veeramah, J. Shendure, G. Carvill, 2014 .

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.

Multicenter long‐term follow‐up of children with idiopathic West syndrome: ACTH versus vigabatrin

Y. Nevo, B. Ben-Zeev, U. Kramer, 2009, European journal of neurology.

Phenytoin pharmacokinetics in catamenial epilepsy

A. Korczyn, S. Gitter, P. Lerman, 1984, Neurology.

Idiopathic Photosensitive Occipital Epilepsy

A. Shuper, S. Kivity, H. Goldberg-Stern, 2014, Journal of child neurology.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

I. Scheffer, S. Berkovic, M. Kinali, 2012, Neurology.

Low-dose adrenocorticotropin test reveals impaired adrenal function in patients taking inhaled corticosteroids.

Y. Weisman, Z. Spirer, S. Kivity, 1995, The Journal of clinical endocrinology and metabolism.

Women’s Intention to Abort a Fetus Diagnosed with a Genetic Disease: Results from Israel, Cyprus and Germany

S. Barnoy, S. Kivity, 2021 .

Erythromycin inhibits respiratory glycoconjugate secretion from human airways in vitro.

S. Goswami, S. Kivity, Z. Marom, 1990, The American review of respiratory disease.

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.

Clinical Experience With Open-Label Topiramate Use in Infants Younger Than 2 Years of Age

B. Ben-Zeev, T. Lerman-Sagie, Itai Berger, 2003, Journal of child neurology.

Frequency of CNKSR2 mutation in the X‐linked epilepsy‐aphasia spectrum

I. Scheffer, S. Berkovic, R. Burgess, 2017, Epilepsia.

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood

S. Berkovic, M. Bahlo, K. Oliver, 2017, Epilepsy Research.

Epilepsy and mental retardation limited to females: an under-recognized disorder.

K. Friend, I. Scheffer, M. Shaw, 2008, Brain : a journal of neurology.

Defective Auditory Processing in a Child With Temporal Epileptic Focus

A. Shuper, S. Kivity, Mordechai Medvedovsky, 2015, Journal of child neurology.

Focal epileptic EEG discharges in children not suffering from clinical epilepsy.

P. Lerman, S. Kivity, 1992, Epilepsy research. Supplement.

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

J. Gécz, G. Jackson, S. Berkovic, 2013, Epilepsy Research.

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

I. Scheffer, S. Berkovic, D. Lev, 2015, Epilepsia.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

Mild adolescent/adult onset epilepsy and paroxysmal exercise‐induced dyskinesia due to GLUT1 deficiency

S. Berkovic, A. Korczyn, K. Oliver, 2010, Epilepsia.

The efficacy of corticotropin in primary infantile spasms.

P. Lerman, S. Kivity, 1982, The Journal of pediatrics.

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.

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Kate M. Lawrence, I. Scheffer, S. Berkovic, 2012, Annals of neurology.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

James N. Hughes, I. Scheffer, E. Haan, 2012, American journal of human genetics.

Novel mutation in KCNQ2 causing benign familial neonatal seizures.

Z. Afawi, S. Kivity, H. Goldberg-Stern, 2009, Pediatric neurology.

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

I. Scheffer, S. Berkovic, J. Mulley, 2007, Journal of Medical Genetics.

Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes

O. Gonen, A. Shuper, S. Kivity, 2010, Seizure.

Benign occipital epilepsies of childhood: clinical features and genetics.

I. Scheffer, S. Berkovic, I. Taylor, 2008, Brain : a journal of neurology.

Panayiotopoulos syndrome: a consensus view

M. Koutroumanidis, H. Oguni, Kazuyoshi Watanabe, 2006, Developmental medicine and child neurology.

Mortality in Dravet syndrome

I. Scheffer, E. Wirrell, V. Ramesh, 2016, Epilepsy Research.

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.

Cognitive function in idiopathic generalized epilepsy of childhood

N. Gadoth, L. Kishon-Rabin, Y. Henkin, 2005, Developmental medicine and child neurology.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

François Dubeau, Frederick Andermann, Samuel F. Berkovic, 2013, Nature Genetics.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

J. Gécz, G. Jackson, S. Berkovic, 2010, American journal of human genetics.

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.

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

I. Scheffer, A. Palotie, P. Striano, 2021, American journal of human genetics.

Early‐Onset Benign Occipital Seizure Susceptibility Syndrome

G. Capizzi, A. Beaumanoir, R. Robinson, 1997, Epilepsia.

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

M. Scott, J. Axelrod, A. Bassuk, 2008, American journal of human genetics.

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

I. Scheffer, P. Striano, S. Berkovic, 2009, Epilepsia.

Effect of High-Dose Glucocorticosteroid Treatment for Infantile Spasms on Quantitative Bone Parameters Later in Life

S. Kivity, H. Goldberg-Stern, A. Zeharia, 2012, Journal of child neurology.

Risk of infection during adrenocorticotropic hormone treatment in infants with infantile spasms

G. Alpert, R. Shamir, B. Garty, 1993, The Pediatric infectious disease journal.

Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years

L. Kornreich, R. Straussberg, A. Halevy, 2020, Neuropediatrics.

Stormy onset with prolonged loss of consciousness in benign childhood epilepsy with occipital paroxysms.

P. Lerman, S. Kivity, 1992, Journal of neurology, neurosurgery, and psychiatry.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

I. Scheffer, E. Wirrell, M. Mackay, 2013, Epilepsia.

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

J. Lupski, S. Berkovic, A. Mégarbané, 2005, Neurology.

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

W. van Paesschen, P. Dupont, P. Ryvlin, 2008, Brain : a journal of neurology.

Linguistic Processing in Idiopathic Generalized Epilepsy: An Auditory Event‐related Potential Study

H. Pratt, N. Gadoth, L. Kishon-Rabin, 2003, Epilepsia.

Long-term Follow-up for Ophthalmologic Sequelae in Children Treated With Corticosteroids for Infantile Spasms

M. Snir, S. Kivity, H. Goldberg-Stern, 2012, Journal of child neurology.

Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

I. Scheffer, S. Berkovic, S. Petrovski, 2016, Annals of neurology.

Cognitive function in idiopathic generalized epilepsy of childhood.

N. Gadoth, L. Kishon-Rabin, Y. Henkin, 2005 .

Childhood Epilepsy With Occipital Paroxysms: Clinical Variants in 134 Patients

R. Weitz, A. Tamir, S. Kivity, 2000 .

Childhood Epilepsy With Occipital Paroxysms: Clinical Variants in134 Patients

R. Weitz, A. Tamir, S. Kivity, 2000, Epilepsia.

Benign occipital epilepsy mimicking a catastrophic intracranial event

Y. Weisman, S. Kivity, T. Schonfeld, 2001, Pediatric emergency care.

Transient Oromotor Deficits in Children with Benign Childhood Epilepsy with Central Temporal Spikes

B. Ben-Zeev, S. Harel, U. Kramer, 2001, Epilepsia.

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.

Thiamine deficiency in infancy: long-term follow-up.

A. Fattal-Valevski, A. Zvulunov, S. Kivity, 2014, Pediatric neurology.

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2019, Epilepsia.

Epilepsy in children with infantile thiamine deficiency

A. Fattal-Valevski, U. Kramer, S. Kivity, 2009, Neurology.

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.

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2022 .

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

I. Scheffer, J. Gécz, F. Dubeau, 2013, Nature Genetics.

Epilepsy in children with infantile thiamine deficiency

A. Fattal-Valevski, U. Kramer, S. Kivity, 2009, Neurology.

Panayiotopoulos syndrome: a consensus view

M. Koutroumanidis, H. Oguni, Kazuyoshi Watanabe, 2006, Developmental medicine and child neurology.

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.

Thiamine deficiency in infancy: long-term follow-up.

A. Fattal-Valevski, A. Zvulunov, S. Kivity, 2014, Pediatric neurology.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

James N. Hughes, I. Scheffer, E. Haan, 2012, American journal of human genetics.

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2017, Neurology.