Results 41 to 50 of about 142,677 (240)

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort

Molecular Genetics & Genomic Medicine, 2021
We determined the yield, genetic spectrum, and actual origin of de novo mutations (DNMs) for infantile spasms (ISs) in a Chinese cohort. The efficacy of levetiracetam (LEV) for STXBP1‐related ISs was explored also.
Liying Liu, Fang Liu, Qiuhong Wang, Hua Xie, Zhengchang Li, Qian Lu, Yang-Yang Wang, Mengna Zhang, Yu Zhang, J. Picker, X. Cui, L. Zou, Xiaoli Chen   +12 more
semanticscholar   +1 more source

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti, CASTALDO, Rosa, FERRETTI, ALESSANDRO, Filomena Ianniello, Francesco Chiarelli, PAOLINO, MARIA CHIARA, PARISI, Pasquale, VILLA, MARIA PIA   +7 more
core   +2 more sources

Infantile Spasms

Pediatric Neurology Briefs, 1988
Four infants with partial seizures evolving to infantile spasms were investigated using simultaneous EEG-video-telemetry recording in the Dept of Pediatrics, Nagoya University, Nagoya, and Division of Pediatric Neurology, Central Hospital, Aichi ...
J Gordon Millichap
doaj   +1 more source

Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents [PDF]

, 2012
Background Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early ...
Gibson, Patricia A., Hardin, Maria, Luther Rosbeck, Kari, O’Dell, Christine, Pellock, John M., Wheless, James W., Whittemore, Vicky   +6 more
core   +2 more sources

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

A team science approach to discover novel targets for infantile spasms (IS)

Epilepsia Open, 2021
Infantile spasms (IS) is a devastating epilepsy syndrome that typically begins in the first year of life. Symptoms consist of stereotypical spasms, developmental delay, and electroencephalogram (EEG) that may demonstrate Hypsarhythmia.
The CURE Infantile Spasms Consortium, CURE Staff, Laura Lubbers, Sloka S. Iyengar   +2 more
doaj   +1 more source

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

, 2017
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K, Clayton-Smith, J, Dabir, T, DDD Study, Evers, JMG, Josifova, D, Joss, S, Kerr, B, Kraus, A, Laskowski, RA, McEntagart, M, Morton, J, O'Brien, S, Smith, A, Splitt, M, Suri, M, Thornton, JM, Wright, CF   +17 more
core   +2 more sources

Limited efficacy of zonisamide in the treatment of refractory infantile spasms

Epilepsia Open, 2020
A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of ...
Shaun A. Hussain, Mario Navarro, Jaeden Heesch, Matthew Ji, Brenda Asilnejad, Haley Peters, Rajsekar R. Rajaraman, Raman Sankar   +7 more
doaj   +1 more source

Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]

, 2017
Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
core   +1 more source