Results 51 to 60 of about 10,435 (208)
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Objectives Antiseizure medications (ASMs) can induce the activity of drug‐metabolizing enzymes and drug transporters, including cytochrome P450 (CYP)2C9 and P‐glycoprotein (P‐gp). Our objective was to comparatively assess the effects of ASMs on exposure to clinical CYP2C9 and P‐gp substrates.
Hagar Cohen +4 more
wiley +1 more source
Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]
, 2010 In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio +7 more
core +1 more source
Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review
Epileptic Disorders, EarlyView.Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley +1 more source
Reconsideration of Vigabatrin Effect in Infantile Spasms Treatment [PDF]
Annals of Child Neurology, 2019 Purpose To investigate the effect of vigabatrin (VGB) as a therapeutic agent for patients with infantile spasms (IS), compare risk factors for treatment response, and review safety of VGB by assessing its side effects.
Da Hye Yoon +3 more
doaj +1 more source
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
Epilepsia, EarlyView.Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan +23 more
wiley +1 more source
Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]
, 2017 Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N +7 more
core +1 more source
KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy
Epilepsia, EarlyView.Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan +20 more
wiley +1 more source
Case Reports in Pediatrics, 2019 A 5.5-month-old female infant with tuberous sclerosis complex presented with infantile spasms and was treated with vigabatrin. As her condition did not improve, she was given adrenocorticotropic hormone (ACTH) intramuscularly which stopped the spasms and
Eleni Klinaki +6 more
doaj +1 more source