ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2010
Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 33 citations in OpenAlex.
- A diagnostic approach to neurocutaneous syndromes.Arquivos de neuro-psiquiatria · 2025Review
- Shared Etiology in Autism Spectrum Disorder and Epilepsy with Functional Disability.Behavioural neurology · 2022Review
- Phakomatoses and cutaneous manifestations associated with moyamoya disease and syndrome.Postepy dermatologii i alergologii · 2020Review
- Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.JAMA neurology · 2016Article
- Epilepsy and Autism.Cold Spring Harbor perspectives in medicine · 2016Review
- Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.Medicine · 2016Article
- Hypomelanosis of Ito: a round on the frequency and type of epileptic complications.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Review
- The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.Sudanese journal of paediatrics · 2014Article
- Is spontaneous disappearance of nevus depigmentosus possible?Annals of dermatology · 2012Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are patients with generalized seizures well controlled by drug treatment, whereas at the opposite there are patients with severe, often pharmacoresistant, focal seizures. The genetic substrate for HI syndrome is not homogenous and only partially understood. Further researches are required to shed light on the pathogenesis of HI phenotypes.
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