Results 41 to 50 of about 9,861 (247)

"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

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

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources

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

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

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]

, 2016
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G, Kurian, MA, McTague, A, Meyer, E, Ngoh, A, Papandreou, A, Scott, RH, Trump, N   +7 more
core   +1 more source

How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium [PDF]

, 2015
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111205/1/epi12951 ...
Allen, Berg, Carvill, Epilepsy Commission on Pediatric Epilepsy of the International League Against Epilepsy, Gaillard, Kamien, Liu, Michaud, Mulley, Osborne, Paciorkowski, Pellock, Sidenvall, Torrisi, Trevathan, Wong   +15 more
core   +1 more source

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies

Neurobiology of Disease, 2015
Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with medically intractable or difficult to treat epileptic seizures and prominent cognitive, neurodevelopmental and behavioral consequences.
Aristea S. Galanopoulou, Solomon L. Moshé   +1 more
doaj   +1 more source

Mechanisms of infantile epileptic spasms syndrome: What have we learned from animal models?

Epilepsia, 2023
The devastating developmental and epileptic encephalopathy of infantile epileptic spasms syndrome (IESS) has numerous causes, including, but not limited to, brain injury, metabolic, and genetic conditions.
Andy Cheuk-Him Ng, Anamika Choudhary, K. Barrett, C. Gavrilovici, Morris H. Scantlebury   +4 more
semanticscholar   +1 more source

Infantile spasms and developmental delay: A case of miller–Dieker syndrome

Indian Pediatrics Case Reports, 2023
Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George, Carol Sara Cherian, Reji Thomas, Sebin Sunnychan   +3 more
doaj   +1 more source