Publications by authors named "Cocco Isabella"
Epileptic nystagmus (EN) is an uncommon ictal clinical manifestation characterized by rapid, repetitive eyeballs movements. Few cases of EN have been reported and, in most cases, electro-clinical correlation showed a focal EEG activity, mainly in the occipital and temporo-occipital areas. Although EN occurs both in idiopathic and non-idiopathic epilepsy, the most frequent cause appears to be inborn or acquired alteration of brain structures.
View Article and Find Full Text PDFArticle Synopsis
- Alternating hemiplegia of childhood is a rare neurodevelopmental disorder linked to genetic mutations, showing potential disease progression despite limited systematic studies.* -
- A study involving 42 US patients found that as patients age, there is a mild worsening in non-paroxysmal disability scores, with early-life disability scores predicting later outcomes.* -
- Similar findings were observed in a French cohort and in a mouse model, indicating that age is a significant factor in the progression of the disorder.*
Mowat-Wilson syndrome: growth charts.
Orphanet J Rare Dis
June 2020
Background: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist.
View Article and Find Full Text PDFPurpose: Infantile spasms (IS) represent a severe seizure disorder of infancy and early childhood characterized by epileptic spasms along with hypsarrhythmia often accompanied by intellectual disability. According to the current classification and terminology (3) IS can be categorized as known etiology, formerly known as "symptomatic", when an underlying cause has been observed prior to the onset of spasms, or of "unknown cause" with "unfavorable" and "favorable" outcome (previously referred as "cryptogenic" or "idiopathic", respectively). Single reports described children with "unknown cause and favorable outcome" (UC/FO) IS who later developed childhood absence epilepsy (CAE).
View Article and Find Full Text PDFExpanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
Am J Med Genet B Neuropsychiatr Genet
December 2018
Article Synopsis
- Two siblings exhibited failure to thrive, microcephaly, moderate intellectual disability, developmental delays, seizures, and an identical EEG pattern, leading to genetic testing after ruling out other conditions.* -
- Genetic tests revealed both siblings had compound heterozygous mutations in the MED17 gene, with distinct mutations inherited from each parent.* -
- The findings suggest that MED17 mutations may cause a specific set of symptoms, including microcephaly and ataxia, prompting recommendations for genetic testing in patients showing similar symptoms.*
Purpose: The aim of this trial was to investigate the efficacy and safety of transcutaneous vagal nerve stimulation (t-VNS) in the palliative treatment of drug resistant epileptic patients ineligible for surgery.
Methods: Twenty adult patients received four hours of t-VNS per day for six months (T1), followed by a two-month washout period (T2). The frequency and type of seizures recorded at T1 and T2 were compared with those occurring in the three months preceding study entry (T0).