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Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.
Seizure
October 2024
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Article Synopsis
- Patients with AP-4 deficiency have developmental delays and seizures that start early in life, along with other issues like trouble with speech and movement.
- The study looked at how these seizures happen and how patients respond to treatment, finding various types of seizures and some unique brain wave patterns.
- Overall, while epilepsy can develop at different ages, many patients had a good outlook, and they didn’t seem to be resistant to medications.
The epileptic blip syndrome.
Epilepsy Behav Rep
June 2024
Univ. Grenoble Alpes, Univ. Savoie Mont Blanc, CNRS, LPNC, 38000 Grenoble, France.
We report on the case of an adolescent with juvenile myoclonic epilepsy exhibiting compulsory sporadic voluntary movement. These movements entailed the deliberate act of touching her forehead with her hand and were triggered by a short and indefinable cephalic sensation. Upon inquiry regarding the nature of this movement, the patient reported a sudden perception of a peculiar event localized "inside her head".
View Article and Find Full Text PDFDecoding cognition in neurodevelopmental, psychiatric and neurological conditions with multivariate pattern analysis of EEG data.
Neurosci Biobehav Rev
September 2024
School of Psychology, Vita-Salute San Raffaele University, Milan, Italy; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. Electronic address:
Multivariate pattern analysis (MVPA) of electroencephalographic (EEG) data represents a revolutionary approach to investigate how the brain encodes information. By considering complex interactions among spatio-temporal features at the individual level, MVPA overcomes the limitations of univariate techniques, which often fail to account for the significant inter- and intra-individual neural variability. This is particularly relevant when studying clinical populations, and therefore MVPA of EEG data has recently started to be employed as a tool to study cognition in brain disorders.
View Article and Find Full Text PDFEpilepsy, EEG and chromosomal rearrangements.
Epilepsia Open
August 2024
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Article Synopsis
- Chromosomal abnormalities can lead to various clinical issues, with epilepsy being one of the most common manifestations, where the type and severity of seizures depend on specific chromosomal rearrangements.
- The study focused on identifying electroencephalographic patterns related to specific chromosomal disorders, but no unique electroclinical biomarkers were found that consistently indicated a particular rearrangement.
- The review also highlighted various chromosomal microdeletions and duplications associated with different types of seizures and syndromes, emphasizing the complexity and variability in clinical presentations among patients with chromosomal anomalies.
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Clin Neurophysiol Pract
February 2024
IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa, Italy.
Introduction: Pathogenic variants of the MTOR gene result in the Smith-Kingsmore syndrome, whose phenotypical spectrum includes facial dysmorphisms and neurological features. Expressivity is variable, patients exhibit a combination of intellectual disability, macrocephaly and epilepsy. The diagnosis can be missed, failing to detect the causative pathogenic mutation in patients with somatic mosaicism or even skipping to analyze when the phenotype is not completely expressed.
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