Results 11 to 20 of about 15,684 (257)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. [PDF]

, 2011
Infantile spasms is an epileptic encephalopathy of early infancy with specific clinical and electroencephalographic (EEG) features, limited treatment options, and a poor prognosis.
Arnason, Barry GW, Baram, Tallie Z, Catania, Anna, Cortez, Miguel A, Glauser, Tracy A, Pranzatelli, Michael R, Riikonen, Raili, Rogawski, Michael A, Shinnar, Shlomo, Stafstrom, Carl E, Swann, John W   +10 more
core   +2 more sources

Aicardi Syndrome: A Rare Cause of Infantile Spasms [PDF]

International Journal of Anatomy Radiology and Surgery
Infantile spasms may occur in isolation or as part of multiple neurodevelopmental syndromes. We report an eight-month-old female infant presenting with infantile spasms, developmental delay, and characteristic features of Aicardi syndrome ...
Rituparna Das, Amolpreet Kumar Saini, Namdev Seth   +2 more
doaj   +1 more source

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

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

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

Investigations in West Syndrome: Which, When and Why

Pediatric Neurology Briefs, 2015
Investigators from the National Infantile Spasms Consortium (NISC) in the USA studied the etiology of new-onset infantile spasms (IS) in 251 infants (mean age at onset, 7.1, range, 0.1-22.7 months).
Richard E Appleton
doaj   +1 more source

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

Frontiers in Neurology, 2021
Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited.
Rima Nabbout, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Finbar O'Callaghan, Jiong Qin, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, J. Chris Kingswood   +30 more
doaj   +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.
PARISI, Pasquale, Alberto Verrotti, PAOLINO, MARIA CHIARA, CASTALDO, Rosa, Filomena Ianniello, FERRETTI, ALESSANDRO, Francesco Chiarelli, VILLA, MARIA PIA   +7 more
core   +1 more source

Safety and Efficacy of Vigabatrin for the Treatment of Infantile Spasms

Journal of Central Nervous System Disease, 2011
In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile ...
Michele A. Faulkner, Justin A. Tolman
doaj   +1 more source