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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

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

Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

M. Hammer, Manuela Pendziwiat, I. Helbig, 2022, Epilepsia.

Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

A. Korczyn, Manuela Pendziwiat, I. Helbig, 2014, 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.

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome

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

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

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

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

C. Worby, R. Michelucci, J. Serratosa, 2020, Epilepsy & Behavior.

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

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

Gene and Cell Therapy for Epilepsy: A Mini Review

V. Solovyeva, A. Rizvanov, Aysilu I. Mullagulova, 2022, Frontiers in Molecular Neuroscience.

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

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

Glucose Transporter 1 deficiency and associated conditions in children

E. Gorobets, S. Y. Volgina, R. Gamirova, 2019, Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).

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

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

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.

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

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Manuela Pendziwiat, R. Møller, I. Helbig, 2016, Molecular genetics & genomic medicine.

Clinical Genetic Testing and Counseling in Psychiatry

S. Kushner, C. Bouwkamp, Z. Afawi, 2019, Clinical Genome Sequencing.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, 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.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

C. Reid, J. Massano, D. Friedman, 2017, Annals of neurology.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

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.

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*

E. Karam, H. Mandel, S. Berkovic, 2013, The Journal of Biological Chemistry.

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.

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

F. Rosenow, Manuela Pendziwiat, I. Helbig, 2017, Journal of Neurology.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Benign Neonatal Sleep Myoclonus

I. Scheffer, S. Berkovic, A. Korczyn, 2012, Journal of child neurology.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

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.

Blood–brain barrier disruption in post-traumatic epilepsy

I. Shelef, A. Friedman, D. Zumsteg, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

I. Scheffer, S. Berkovic, A. Korczyn, 2015, Human molecular genetics.

Epilepsy with Early Ataxia

S. Berkovic, A. Korczyn, M. Bahlo, 2015 .

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.

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Manuela Pendziwiat, I. Helbig, G. Kuhlenbäumer, 2020, Annals of clinical and translational neurology.

Epidemiological characteristics of febrile seizures—Comparing between Bedouin and Jews in the Southern part of Israel

A. Shimony, M. Mahajnah, Z. Shorer, 2009, Seizure.

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

S. Kushner, H. Mandel, M. Vernooij, 2018, Neurology: Genetics.

ACO2 homozygousmissensemutation associated with complicated hereditary spastic paraplegia

A. Brice, A. Fattal-Valevski, C. Bouwkamp, 2022 .

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2

I. Scheffer, J. Gécz, P. Striano, 2016, Human Genetics.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

P. Robinson, D. Horn, S. Mundlos, 2016, Human mutation.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2

I. Scheffer, J. Gécz, P. Striano, 2016, Human Genetics.

PRRT2 mutations: exploring the phenotypical boundaries

L. Lagae, W. van Paesschen, L. de Meirleir, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia

F. Rosenow, L. Sheintuch, Manuela Pendziwiat, 2015, Journal of Neurology.

ACO 2 homozygous missense mutation associated with complicated Hereditary spastic paraplegia

A. Brice, A. Fattal-Valevski, C. Bouwkamp, 2018 .

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

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

Genetic epilepsy with febrile seizures plus

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

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea‐acanthocytosis

Variable PARK2 Mutations Cause Early-Onset Parkinson’s Disease in a Small Restricted Population

S. Ben-Shachar, A. Orr-Urtreger, S. Badarny, 2017, Journal of Molecular Neuroscience.

The impact of nutritional vitamin B12, folate and hemoglobin deficiency on school performance of elementary school children

A. Bolotin, M. Mahajnah, Z. Afawi, 2008, Journal of 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.