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4161
Structure–Activity Relationship Studies in a Series of 2-Aryloxy-<i>N</i>-(pyrimidin-5-yl)acetamide Inhibitors of SLACK Potassium Channels
Published 2024-11-01“…Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare, serious, and pharmacoresistant epileptic disorder often linked to gain-of-function mutations in the <i>KCNT1</i> gene. …”
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4162
Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report
Published 2025-01-01“…Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. …”
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4163
Sobressalto patológico: aspectos clínicos e eletrencefalográficos Startle seizures: clinical and electroencephalographic studies
Published 1967-06-01“…The situation of the disease among reflex epilepsies is revised.…”
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4164
Dev intrakranial lipom olgu sunumu ve literatürün gözden geçirilmesi
Published 2014-12-01“…En sık semptom baş ağrısıdır. Bununla birlikte epilepsi, hemipleji gözlenebilir. Bu benign karekterdeki kitlelere BBT ve kraniyal magnetik rezonans(MRG) görüntüleme ile tanı konulabilir. …”
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4165
Proton magnetic spectroscopy agreed better with magnetic resonance image to lateralization of epileptogenic zone than with surface electroencephalography
Published 2013-09-01“…Objective To analyze the agreement rate of proton magnetic spectroscopy with magnetic resonance image (MRI) and surface electroence-phalography (EEG) in extratemporal neocortical epilepsies. Methods A cross-sectional study, type series of cases included 33 patients, age range 13–59 years old, of both gender, presenting structural alteration identified by MRI (75.8%) or by neurophysiologic techniques (72.7%). …”
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4166
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Published 2025-01-01“…WES revealed a diagnostic yield of 45%, identifying conditions such as intellectual disabilities, hereditary metabolic disorders and epilepsies. It also uncovered neurodevelopmental and neurodegenerative disorders, neuromuscular diseases, and genetic syndromes. …”
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4167
Mental deterioration in lafora's disease
Published 1990-06-01“…Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration. …”
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4168
Musical hallucination associated with hearing loss
Published 2011-01-01“…Concerning the cortical area involved in musical hallucination, there is evidence that the excitatory mechanism of the superior temporal gyrus, as in epilepsies, is responsible for musical hallucination. …”
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4169
Otizm Spektrum Bozukluğunda Refleks Tabanlı Motor ve Gelişimsel Problemler: Fear Paralysis ve Moro
Published 2021-12-01“…Ayrıca OSB, dispraksi, epilepsi, alerjiler, serebral palsi, disleksi gibi sorunlara yol açabilmekte veya eşlik edebilmektedirler. …”
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4170
Peran Vektor Anopheles sp. dan Faktor Risiko Host dalam Kejadian Malaria Serebral serta Dampaknya terhadap Fungsi Otak Manusia di Wilayah Endemis
Published 2025-06-01“…Dampak neurologis yang umum meliputi gangguan kognitif, epilepsi, dan defisit motorik, dengan prevalensi komplikasi jangka panjang pada survivor mencapai 10–24%. …”
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4171
Targeting shared molecular etiologies to accelerate drug development for rare diseases
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4172
AMPA GluA1-flip targeted oligonucleotide therapy reduces neonatal seizures and hyperexcitability.
Published 2017-01-01“…Importantly, GR1 demonstrated anti-seizure properties and reduced post-seizure hyperexcitability in neonatal mice, highlighting its drug candidate potential for treating epilepsies and other neurological diseases involving network hyperexcitability.…”
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4173
SEEG-Based Bilateral Seizure Network Analysis for Neurostimulation Treatment
Published 2025-01-01“…Epilepsy patients with drug-resistant seizures emanating from two or more distinct regions of left and right hemispheres are the primary candidates for neurostimulation treatment. …”
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4174
Novel Lipid Formulation Increases Absorption of Oral Cannabidiol (CBD)
Published 2024-12-01“…<b>Background</b>: Cannabidiol (CBD) is an approved treatment for childhood epilepsies and a candidate treatment for several other CNS disorders. …”
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4175
The impact of REM-sleep behavior disorder on people with Parkinson’s disease and their partners
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4176
DEPDC5 regulates the strength of excitatory synaptic transmission by interacting with ubiquitin-specific protease 46
Published 2025-08-01“…Loss-of-function mutations in human DEPDC5 are the most common cause of lesional or non-lesional focal epilepsies associated with mTOR hyperactivation. Depdc5 silencing in mature neurons leads to excitation/inhibition imbalance and increased excitatory synapse strength. …”
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4177
Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study
Published 2025-08-01“…Perampanel, as a novel anti‐seizure medication approved for focal and generalized epilepsies as add‐on therapy, showed sufficient efficacy and a satisfactory safety and tolerability profile in this study.…”
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4178
Tratamento medicamentoso de 1217 pacientes epilépticos. II: estudo em relação à idade de início, ao tempo de doença e à freqüência das crises Drug treatment of 1217 epileptic patie...
Published 1970-03-01“…Since some initial forms, even when submitted to early treatment, had bad evolution, the presence of imponderable and unpredictable factors exercting negative influences in the prognosis of the epilepsies is admissible.…”
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4179
Neuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors
Published 2025-02-01“…Loss of function in the subunits of the GTPase-activating protein (GAP) activity toward Rags-1 (GATOR1) complex, an amino-acid sensitive negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), is implicated in both genetic familial epilepsies and Neurodevelopmental Disorders (NDDs) (Baldassari et al., 2018). …”
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4180
Auditory evoked delta brushes involve stimulus-specific cortical networks in preterm infants
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