Martino Montomoli

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The phenotype of SCN8A developmental and epileptic encephalopathy

I. Scheffer, G. Rubboli, R. Møller, 2018, Neurology.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

GNAO1 encephalopathy

N. Mahant, E. Valente, F. Raymond, 2017, Neurology: Genetics.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

F. Kortüm, K. Girisha, A. Shukla, 2018, European Journal of Human Genetics.

SYNGAP1 encephalopathy

I. Scheffer, H. Mefford, S. Berkovic, 2018, Neurology.

SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

I. Scheffer, H. Mefford, S. Berkovic, 2022 .

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

D. Montanaro, R. Borgatti, F. Zara, 2020, Neurology.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

V. Mootha, Pedro Rebelo-Guiomar, Aaron R D'Souza, 2017, Human molecular genetics.

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

I. Nogués, R. Guerrini, A. Paiardini, 2017, Molecular genetics and metabolism.

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

C. Romano, A. Coppola, N. Brunetti‐Pierri, 2020, European 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.

Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

C. Barba, R. Guerrini, D. Mei, 2017, Human mutation.

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.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome

N. Mahant, E. Valente, F. Raymond, 2022 .

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

P. Striano, A. Coppola, S. Sisodiya, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a 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.

Deciphering the premature mortality in PIGA-CDG – An untold story

Z. Tümer, G. Rubboli, R. Møller, 2020, Epilepsy Research.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Neuroimaging in mitochondrial disorders.

M. Mascalchi, R. Guerrini, Martino Montomoli, 2018, Essays in biochemistry.

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.

T. Foiadelli, C. Pantaleoni, R. Battini, 2021, Molecular genetics and metabolism.

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

C. Bruno, F. Santorelli, R. Battini, 2021, Journal of clinical medicine.

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)

I. Nogués, R. Guerrini, A. Paiardini, 2017, Data in brief.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

C. Romano, A. Coppola, N. Brunetti‐Pierri, 2019, The Cerebellum.

A. Coppola, N. Brunetti‐Pierri, V. Capra, 2023, European Journal of Human Genetics.

SYNGAP1 encephalopathy

H. Mefford, S. Berkovic, R. Kalnins, 2018, Neurology.

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.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

E. Parrini, T. Pisano, F. Melani, 2024, American journal of medical genetics. Part C, Seminars in medical genetics.