Results 21 to 30 of about 261,143 (157)

DMD and West syndrome

Neuromuscular Disorders, 2017
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy.
Cardas, R, Iliescu, C, Butoianu, N, Seferian, A, Gataullina, S, Gargaun, E, Nectoux, J, Bienvenu, T, Craiu, D, Gidaro, T, Servais, L   +10 more
openaire   +4 more sources

Valproate for Intractable Epilepsy

Pediatric Neurology Briefs, 1992
The efficacy and side effects of high dose valproic acid (VPA) therapy in 46 children with refractory epilepsy were studied at the Department of Child Neurology, Okayama University Medical School, Okayama, Japan.
J Gordon Millichap
doaj   +1 more source

Unusual cause of west syndrome

Journal of Pediatric Neurosciences, 2017
Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period.
Kasinathan, Ananthanarayanan, Padmanabh, Hansashree, Gupta, Kirti, Sankhyan, Naveen, Singh, Paramjeet, Singhi, Pratibha   +5 more
openaire   +3 more sources

Neuro-developmental and epilepsy outcomes of children with west syndrome: A cross-sectional study from North India

Annals of Indian Academy of Neurology, 2020
Objectives: To assess the neurodevelopmental outcome of West syndrome (WS) in Indian children, who differ in their clinical profile from the western population.
Juhi Gupta, Suvasini Sharma, Sharmila B Mukherjee, Puneet Jain, Satinder Aneja   +4 more
doaj   +1 more source

The early electroclinical manifestations of infantile spasms: A video EEG study

Annals of Indian Academy of Neurology, 2016
Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature.
Mary Iype, Puthuvathra Abdul Mohammed Kunju, Geetha Saradakutty, Devi Mohan, Shahanaz Ahamed Mohammed Khan   +4 more
doaj   +1 more source

WEST SYNDROME REVISITED

Эпилепсия и пароксизмальные состояния, 2017
West syndrome is an epileptic syndrome, characterized by a triad of symptoms: infantile spasms, hypsarrhythmia on interictal EEG, and a regression or delay of psycho-motoric development.
T. G. Okhapkina, Z. K. Gorchanova, I. V. Shulyakova, E. S. Ilyina, E. S. Michurina, E. D. Belousova   +5 more
doaj   +1 more source

A unique collaborative model providing supportive and self-advocacy tools to the rare disease community

Rare
The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS.
Juliette M. Harris, Jacqui Fish, Jared Griffin, Gemma Hasnaoui, Clare Stacey, Neeti Ghali, Fleur S. van Dijk   +6 more
doaj   +1 more source

Electroclinical Features of Infantile Epileptic Spasms Syndrome

Annals of Indian Academy of Neurology
Epileptic spasms are a unique, age-dependent manifestation of epilepsies in infancy and early childhood, commonly occurring as part of infantile epileptic spasms syndrome.
Gozde Erdemir, Ahsan N. Moosa
doaj   +1 more source

Quantification of Hypsarrhythmia in Infantile Spasmatic EEG: A Large Cohort Study

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Infantile spasms (IS) is a neurological disorder causing mental and/or developmental retardation in many infants. Hypsarrhythmia is a typical symptom in the electroencephalography (EEG) signals with IS.
Ruolin Hou, Qiongru Guo, Qinman Wu, Zihao Zhao, Xindan Hu, Yumei Yan, Wenyuan He, Peize Lyu, Ruisheng Su, Tao Tan, Xiaoqiang Wang, Yuanning Li, Dake He, Lin Xu   +13 more
doaj   +1 more source

Association Between Scalp High-Frequency Oscillations and Burden of Amplitudes and Epileptiform Discharges (BASED) Scores in Infantile Epileptic Spasms Syndrome

Biomolecules
Tools for measuring the likelihood of relapse in infantile epileptic spasms syndrome (IESS) treatment could aid clinicians in making critical management decisions.
Keisuke Maeda, Himari Tsuboi, Nami Hosoda, Junichi Fukumoto, Shiho Fujita, Shunta Yamaguchi, Naohiro Ichino, Keisuke Osakabe, Keiko Sugimoto, Gen Furukawa, Naoko Ishihara   +10 more
doaj   +1 more source