List of works - Ayelet Zerem

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

scientific article published on 9 July 2015

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

scientific article published on 04 March 2020

Brain white matter abnormalities associated with copy number variants

scientific article published on 17 October 2019

Clinical phenotypes of infantile onset CACNA1A-related disorder

scientific article published on 20 October 2020

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy

scientific article published on 13 March 2018

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero

scientific article published on 12 January 2012

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt

scientific article

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

scientific article published on 18 May 2020

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

scientific article published on 27 September 2018

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

scientific article published on 14 January 2020

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

scientific article published on 19 September 2013

Metabolic stroke in a patient with bi-allelic OPA1 mutations

scientific article published on 10 April 2019

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

scientific article published on 03 November 2011

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

scientific article published on 25 May 2018

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

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

scientific article published on 8 January 2015

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

scientific article published on 18 April 2014

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

scientific article published on 13 November 2015

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

scientific article published on 12 October 2012

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

scientific article published on 20 August 2017

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

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

scientific article published on 29 August 2016

List of works by Ayelet Zerem