Results 91 to 100 of about 15,320 (235)

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, EarlyView.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source

Correlation study between genetic polymorphisms of melanocortin receptors and adrenocorticotropic hormone responsiveness in infantile spasms

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R) and adrenocorticotropic hormone (ACTH) responsiveness in patients with infantile spasms, and to investigate ...
Xiu⁃yu SHI, Ying⁃xue DING, Zhan⁃li LIU, Kai⁃li SHI, Li⁃ping ZOU   +4 more
doaj  

Oral findings in West syndrome – A Case Report

Brazilian Dental Science, 2017
West syndrome is a severe form of epilepsy syndrome which is characterized by triad of infantile spasms, EEG findings (hypsarrhythmia) and developmental delay.
Sheetal Dilip Badnaware, Shely Pratik Dedhia, Rajiv Desai, Adesh Kakade   +3 more
doaj   +1 more source

Clinical considerations in transitioning patients with epilepsy from clonazepam to clobazam: a case series. [PDF]

, 2014
IntroductionIn treating refractory epilepsy, many clinicians are interested in methods used to transition patients receiving clonazepam to clobazam to maintain or increase seizure control, improve tolerability of patients' overall drug therapy regimens ...
Chung, Steve, Kuzniecky, Ruben, Perry, Michael Scott, Sankar, Raman, Sinha, Saurabh   +4 more
core   +1 more source

Prevalence and incidence of infantile epileptic spasms syndrome in India: A systematic review and meta‐analysis

Epilepsia Open, EarlyView.
Abstract Objectives Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy of infantile onset. While epidemiological data from Western countries and global estimates are available, consolidated evidence on the burden of IESS in India remains limited.
Akanksha Singh, Parth Lal, Mohammed Safeer V.S., Atishay Jain, Priyanka Madaan, Jitendra Kumar Sahu, Dipika Bansal   +6 more
wiley   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir, Archer, Ariani, Artuso, Bahi-Buisson, Carney, Christen, Einspieler, Goutieres, Hagberg, Hagberg, Hagberg, Hagberg, Hanefeld, Huppke, Kankirawatana, Leonard, Neul, Percy, Renieri, Rett, Rolando, Wan, Watson, Zappella   +24 more
core   +1 more source

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, EarlyView.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Pathophysiology of Infantile Spasms

Pediatric Neurology Briefs, 1993
An age-specific endogenous-convulsant hypothesis implicating corticotropin-releasing hormone (CRH), an excitant neuropeptide suppressed by ACTH/steroids, is proposed for the pathophysiology of massive infantile spasms in a report from the University of ...
J Gordon Millichap
doaj   +1 more source

Corticotropin (ACTH) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene expression. [PDF]

, 2001
The hormone corticotropin (ACTH) is employed as therapy for diverse neurological disorders, but the mechanisms for its efficacy remain unknown. ACTH promotes the release of adrenal steroids (glucocorticoids), and most ACTH effects on the central nervous ...
Adan, Baram, Baram, Baram, Baram, Baram, Baram, Baram, Brunson, Crofford, de Wied, Eghbal-Ahmadi, Fisher, Gantz, Gottlieb, Hatalski, Hauger, Hollrigel, Holmes, Hrachovy, Hrachovy, Joseph, Kask, Koo, Lee, Liang, Lightman, Lombroso, Mezey, Mountjoy, Mountjoy, Nalin, Nicholson, Pentella, Pilcher, Pranzatelli, Pranzatelli, Raber, Reul, Riikonen, Rothwell, Sapolsky, Sawchenko, Schulkin, Snead, Snead, Tsagarakis, Watson, Willig, Wu, Yi   +50 more
core   +1 more source