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D. Mei · SciRah

Researcher profile · Semantic Scholar

D. Mei

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D. Mei — researcher profile on SciRah

h-index: 49
Works: 136
Citations: 6,615

Most-cited papers

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Y. Feng, D. Howrigan, L. Abbott, K. Tashman +236 more
2019bioRxiv268 citations Open access
Semantic Scholar
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
E. Parrini, C. Marini, D. Mei, A. Galuppi +14 more
2017Human Mutation158 citations
Semantic Scholar
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Rahel T. Florian, Florian Kraft, E. Leitão, Sabine Kaya +64 more
2019Nature Communications143 citations Open access
Semantic Scholar
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
R. Møller, S. Weckhuysen, M. Chipaux, Elise Marsan +17 more
2016Neurology: Genetics136 citations Open access
Semantic Scholar
SYNGAP1 encephalopathy
D. R. Vlaskamp, B. J. Shaw, R. Burgess, D. Mei +24 more
2018Neurology132 citations Open access
Semantic Scholar
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
M. Corbett, Thessa Kroes, L. Veneziano, M. Bennett +65 more
2019Nature Communications129 citations Open access
Semantic Scholar
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
V. Cetica, S. Chiari, D. Mei, E. Parrini +15 more
2017Neurology124 citations Open access
Semantic Scholar
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C. Marini, A. Porro, A. Rastetter, C. Dalle +66 more
2018Brain : a journal of neurology119 citations Open access
Semantic Scholar
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
N. Di Donato, A. Timms, K. Aldinger, G. Mirzaa +17 more
2018Genetics in Medicine117 citations Open access
Semantic Scholar
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
C. Marini, V. Conti, D. Mei, D. Battaglia +5 more
2012Neurology110 citations Open access
Semantic Scholar
Phenotypic spectrum of GABRA1
K. Johannesen, C. Marini, Siona Pfeffer, R. Møller +42 more
2016Neurology93 citations Open access
Semantic Scholar
Neurologic phenotypes associated with COL4A1/2 mutations
S. Zagaglia, C. Selch, J. Nišević, D. Mei +45 more
2018Neurology90 citations Open access
Semantic Scholar
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
C. de Kovel, E. Brilstra, M. van Kempen, R. van 't Slot +50 more
2016Molecular Genetics & Genomic Medicine88 citations Open access
Semantic Scholar
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
V. Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, E. Parrini +22 more
2013Brain : a journal of neurology83 citations Open access
Semantic Scholar
Pitfalls in genetic testing: the story of missed SCN1A mutations
T. Djémié, S. Weckhuysen, S. von Spiczak, G. Carvill +42 more
2016Molecular Genetics & Genomic Medicine82 citations Open access
Semantic Scholar
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
A. Fassio, Alessandro Esposito, M. Kato, H. Saitsu +21 more
2018Brain : a journal of neurology78 citations Open access
Semantic Scholar
Focal seizures with affective symptoms are a major feature of PCDH19 gene–related epilepsy
C. Marini, F. Darra, N. Specchio, D. Mei +21 more
2012Epilepsia78 citations Open access
Semantic Scholar
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
E. Stögmann, E. Reinthaler, S. Eltawil, Mohammed A. El Etribi +15 more
2013Brain : a journal of neurology75 citations Open access
Semantic Scholar
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies
D. Mei, V. Cetica, C. Marini, R. Guerrini
2019Epilepsia72 citations Open access
Semantic Scholar
Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study
G. Mirzaa, V. Conti, A. Timms, C. Smyser +26 more
2015Lancet Neurology72 citations Open access
Semantic Scholar
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
A. Vetro, Hang N. Nielsen, Rikke Holm, R. Hevner +26 more
2021Brain : a journal of neurology71 citations Open access
Semantic Scholar
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
A. Brunklaus, E. Pérez-Palma, Ismael Ghanty, Xin-Ge Ji +18 more
2022Neurology67 citations Open access
Semantic Scholar
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the AKT3 gene
V. Conti, M. Pantaleo, C. Barba, G. Baroni +7 more
2015Clinical Genetics66 citations
Semantic Scholar
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
R. Guerrini, D. Mei, D. Cordelli, Daniela Pucatti +2 more
2012European Journal of Human Genetics66 citations Open access
Semantic Scholar
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations
C. Marini, M. Romoli, E. Parrini, C. Costa +12 more
2017Neurology: Genetics59 citations Open access
Semantic Scholar
Clinical spectrum of STX1B-related epileptic disorders
S. Wolking, P. May, D. Mei, R. Møller +47 more
2019Neurology57 citations Open access
Semantic Scholar
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients
D. Mei, E. Parrini, C. Marini, R. Guerrini
2017Molecular Diagnosis & Therapy57 citations
Semantic Scholar
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Cristiana Pelorosso, F. Watrin, V. Conti, E. Buhler +13 more
2019Human Molecular Genetics55 citations Open access
Semantic Scholar
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Kevin Lüthy, D. Mei, B. Fischer, M. De Fusco +14 more
2019Brain : a journal of neurology55 citations Open access
Semantic Scholar
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Joshua E. Motelow, G. Povysil, R. Dhindsa, Kate E. Stanley +251 more
2021American Journal of Human Genetics53 citations Open access
Semantic Scholar
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study
N. Specchio, N. Pietrafusa, Viola Doccini, M. Trivisano +13 more
2020Epilepsia51 citations Open access
Semantic Scholar
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity
C. Kyrousi, Adam C. O'Neill, Agnieska Brazovskaja, Zhi-Song He +20 more
2021Nature Communications49 citations Open access
Semantic Scholar
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study
M. Trivisano, N. Pietrafusa, A. Terracciano, C. Marini +36 more
2018Epilepsia49 citations
Semantic Scholar
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Sha Tang, L. Addis, Anna B. Smith, S. Topp +44 more
2020Epilepsia46 citations Open access
Semantic Scholar
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Alessandro Esposito, A. Falace, M. Wagner, M. Gal +24 more
2019Brain : a journal of neurology45 citations Open access
Semantic Scholar
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
S. Balestrini, D. Chiarello, M. Gogou, K. Silvennoinen +23 more
2021Journal of Neurology Neurosurgery & Psychiatry44 citations Open access
Semantic Scholar
The α2B adrenergic receptor is mutant in cortical myoclonus and epilepsy
M. De Fusco, R. Vago, P. Striano, C. di Bonaventura +8 more
2014Annals of Neurology40 citations Open access
Semantic Scholar
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies
Declan Gallagher, E. Pérez-Palma, T. Bruenger, Ismael Ghanty +18 more
2024Epilepsia36 citations Open access
Semantic Scholar
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
A. Vetro, Cristiana Pelorosso, S. Balestrini, A. Masi +117 more
2023American Journal of Human Genetics35 citations Open access
Semantic Scholar
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
Xiao-Lin Zhu, R. Padmanabhan, Brett R. Copeland, Joshua Bridgers +12 more
2017PLoS Genetics34 citations Open access
Semantic Scholar
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
M. di Salvo, M. Mastrangelo, I. Nogués, M. Tolve +8 more
2017Molecular Genetics and Metabolism34 citations
Semantic Scholar
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders
Miriam Nøstvik, Sarah M. Kateta, Bitten Schönewolf-Greulich, A. Afenjar +16 more
2021Clinical Genetics33 citations Open access
Semantic Scholar
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
D. Calame, Tianyu Guo, Chen Wang, L. Garrett +64 more
2023medRxiv32 citations Open access
Semantic Scholar
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants
F. Miceli, R. Guerrini, Mario Nappi, M. V. Soldovieri +5 more
2021Epilepsia32 citations Open access
Semantic Scholar
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
L. Henden, S. Freytag, Z. Afawi, S. Baldassari +25 more
2016Human Genetics31 citations
Semantic Scholar
Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation
Mengnan Tian, D. Mei, E. Freri, C. C. Hernandez +4 more
2012Neurobiology of Disease31 citations Open access
Semantic Scholar
CDKL5 deficiency disorder in males: Five new variants and review of the literature.
B. Siri, C. Varesio, E. Freri, F. Darra +9 more
2021European journal of paediatric neurology30 citations
Semantic Scholar
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy
B. De Maria, S. Balestrini, D. Mei, F. Melani +14 more
2021American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
A. Vetro, Tiziana Pisano, S. Chiaro, E. Procopio +7 more
2020Neurology: Genetics26 citations Open access
Semantic Scholar

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