Results 91 to 100 of about 537,666 (200)
Generalized epilepsy with febrile seizures plus: Clinical and genetic analysis of three Serbian families [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2005 The results of clinical and genetic analysis of three Serbian families (pedigrees) with autosomal dominant inheritance, incomplete penetrance and phenotypic features of GEFS+ are presented in this study.
Ristić Aleksandar J. +10 more
doaj +1 more source
Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future
Epilepsia Open, EarlyView.Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley +1 more source
A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy [PDF]
, 2001 We recently described mutations of the neuronal sodium-channel α-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2.
Sander, Thomas +17 more
core +1 more source
A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland
, 2010 In this report we describe a novel missense SCN1A mutation in a patient affected by Severe Myoclonic Epilepsy Borderland (SMEB). This three and a half year-old female patient experienced prolonged febrile seizures at the age of 14 months, followed by ...
Specchio, Luigi M +7 more
core +2 more sources
Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges
Epilepsia Open, EarlyView.Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus +7 more
wiley +1 more source
Cryptogenic Epileptic Syndromes Related to SCN1A [PDF]
Archives of Neurology, 2008 Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile ...
C. Zucca +17 more
openaire +3 more sources
Stem Cell Research, 2018 Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel Nav1.1.
Yasuyoshi Tanaka +10 more
doaj +1 more source
Dravet Syndrome-Genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children [PDF]
, 2012 BACKGROUND: For Dravet syndrome (DS), 80% had mutation in SCN1A gene, which encoded a voltage-gated sodium channel. Recent study demonstrated that 16% of SCN1A-negative patients had mutations in protocadherin-19 (PCDH19) genes.
Fung, CW +4 more
core +1 more source
Disordered breathing in a mouse model of Dravet syndrome
eLife, 2019 Dravet syndrome (DS) is a form of epilepsy with a high incidence of sudden unexpected death in epilepsy (SUDEP). Respiratory failure is a leading cause of SUDEP, and DS patients’ frequently exhibit disordered breathing.
Fu-Shan Kuo +4 more
doaj +1 more source
Epilepsia Open, EarlyView.Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi +10 more
wiley +1 more source