West's syndrome resists most of the standard anticonvulsants. It may respond, however, to steroids or to some of the newer drugs like vigabatrin.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/978-1-4615-1335-3_6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
No single treatment modality exhibits clear superiority for infantile spasms syndrome: insights from a retrospective cohort study.
Acta Neurol Belg
December 2024
Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
Background: Infantile spasms syndrome is a severe form of infantile epilepsy. It is commonly treated with hormonal therapies or vigabatrin, either alone or in combination. This study aimed to assess the efficacy of these treatment modalities and explore associations with aetiology, and pre-existing developmental delay.
View Article and Find Full Text PDFEngineered tRNAs efficiently suppress CDKL5 premature termination codons.
Sci Rep
December 2024
Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate (Milan), 20054, Italy.
The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. The causative gene is CDKL5, which codes for a kinase required for brain development. There is no cure for CDD patients; treatments are symptomatic and focus mainly on seizure control.
View Article and Find Full Text PDFQuantitative analysis of I-iomazenil single-photon emission computed tomography findings from patients with infantile epileptic spasm syndrome.
Brain Dev
December 2024
Division of Neurology, Saitama Children's Medical Center, 1-2 Chuo-ku Saitama-shi, Saitama 330-8777, Japan.
Purpose: This study aimed to elucidate the distribution of intracranial gamma-aminobutyric acid (GABA) receptors in patients with infantile epileptic spasms syndrome (IESS) of normal brain MRI findings using I-iomazenil single-photon emission computed tomography (IMZ-SPECT).
Methods: This retrospective study compared IMZ-SPECT images from 20 patients with IESS of unknown etiology with normal brain MRI (unknown IESS group) and 23 patients with developmentally normal epilepsy of the same age (developmentally normal group). A three-dimensional stereotactic region of interest (ROI) template was used to divide the brain into 24 segments (left and right callosomarginal, precentral, central, parietal, angular, temporal, posterior cerebral, pericallosal, lenticular nucleus, thalamus, hippocampus, and cerebellum), and the mean accumulation of I-iomazenil in each ROI was calculated.
Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.
Ann Med
December 2025
Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.
Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.
Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.
The Therapeutic Potential of Oral Everolimus for Facial Angiofibromas in Pediatric Tuberous Sclerosis Complex: A Case-Based Analysis of Efficacy.
Diseases
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!