ReviewNeurology. Genetics2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic
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In one paragraph
Review in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
3.9field-weighted citation impact, top 5% of its field
What it found
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy.Acta neuropathologica · 2026Review
- Hemispheric surgery for hemimegalencephaly and hemispheric cortical dysplasia in infants below 12 months of age-A single-center experience.Epilepsia · 2026Article
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- Quantitative cytoarchitectural phenotyping of deparaffinized human brain tissues.Communications biology · 2025Article
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.Epilepsia open · 2024Article
- Article
- WNT pathway in focal cortical dysplasia compared to perilesional nonlesional tissue in refractory epilepsies.BMC neurology · 2023Article
- Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling.Heliyon · 2023Article
- Forward Genetics-Based Approaches to Understanding the Systems Biology and Molecular Mechanisms of Epilepsy.International journal of molecular sciences · 2023Review
- Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.Epilepsia open · 2023Article
- Article
- Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.Brain : a journal of neurology · 2022Article
- MRI of focal cortical dysplasia.Neuroradiology · 2022Review
- Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.Neurology · 2021Review
- Molecular diagnostics in drug-resistant focal epilepsy define new disease entities.Brain pathology (Zurich, Switzerland) · 2021Review
- Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.Frontiers in neuroanatomy · 2021Review
Corrections and comments
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Authors and funding
11 authors at 1 institution in 2 countries.
Renzo GuerriniPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-7272-7079
Mara CavallinPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-0133-7620
Tommaso PippucciPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0001-7737-7963
Anna RosatiPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-8754-7214
Francesca BisulliPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-1109-7296
Paola DimartinoPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.
Carmen BarbaPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0001-5445-5842
Rita GarbelliPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-6475-4974
Anna Maria BuccolieroPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-7113-8387
Laura TassiPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-0632-7296
Valerio ContiPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.ORCID 0000-0002-8326-6378
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo alert about the wide margin of unpredictability that distribution of somatic
methodsClinical, EEG, MRI, histopathology, and molecular genetics in 2 patients (1 and 2) treated with focal resections and subsequent complete hemispherectomy for epileptogenic FCD due to somatic
resultsThe strongly hyperactivating p.Ser2215Phe (patient 1) and p.Leu1460Pro (patient 2)
conclusionsOur understanding of the distribution of somatic mutations in the brain in relation to the type of malformation and its hypothesized time of origin may be faulty. Large studies may reveal that the risk of a first surgery being disappointing might be related more to the specific somatic mammalian target of rapamycin mutation identified than to completeness of resection and that the advantages of repeated resections after a first unsuccessful operation should be weighed against the risk of the contralateral hemisphere becoming in turn epileptogenic.
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