Results 71 to 80 of about 2,272,583 (371)

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source

Current understanding and neurobiology of epileptic encephalopathies

Neurobiology of Disease, 2016
Epileptic encephalopathies are a group of diseases in which epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.
Stéphane Auvin, Maria Roberta Cilio, Annamaria Vezzani   +2 more
doaj  

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy

BMC Neurology, 2022
Background Epileptic spasms are a devastating form of early infantile epileptic encephalopathy (EIEE) with various etiologies. Early diagnosis and a shorter lead time to treatment are crucial to stop the seizures and optimize the neurodevelopmental ...
Kullasate Sakpichaisakul, Rachata Boonkrongsak, Punjama Lertbutsayanukul, Nareenart Iemwimangsa, Sommon Klumsathian, Bhakbhoom Panthan, Objoon Trachoo   +6 more
doaj   +1 more source

A Practical Guide to the Treatment of Dravet Syndrome with Anti-Seizure Medication

CNS Drugs, 2022
Dravet syndrome is a severe developmental and epileptic encephalopathy characterised by refractory seizures and cognitive dysfunction. The treatment is challenging, not least because the seizures are highly drug resistant, requiring multiple anti-seizure
A. Strzelczyk, S. Schubert-Bast
semanticscholar   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

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

Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome.

Brain : a journal of neurology, 1997
Six cases of epilepsy associated with ring chromosome 20 are presented. The study of these cases and 20 cases reported in the literature revealed that they constitute a distinct epileptic syndrome: frequent seizures consisting of a prolonged confusional ...
Y. Inoue, T. Fujiwara, K. Matsuda, H. Kubota, Masashi Tanaka, K. Yagi, K. Yamamori, Y. Takahashi   +7 more
semanticscholar   +1 more source

A phase 2, randomized, double‐blind, placebo‐controlled study to evaluate the efficacy and safety of soticlestat as adjunctive therapy in pediatric patients with Dravet syndrome or Lennox–Gastaut syndrome (ELEKTRA)

Epilepsia, 2022
Dravet syndrome (DS) and Lennox–Gastaut syndrome (LGS) are rare treatment‐resistant childhood epilepsies classed as developmental and epileptic encephalopathies.
Cecil D. Hahn, Yuwu Jiang, V. Villanueva, M. Żołnowska, Dimitrios Arkilo, Samuel Hsiao, M. Asgharnejad, D. Dlugos   +7 more
semanticscholar   +1 more source

Relation of photosensitivity to epileptic syndromes. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1986
Photosensitivity is the most common mode of seizure precipitation. It is age-related, more frequent in females, and most often found in generalised epilepsies. Little is known about its relation to individual epileptic syndromes. This study on 1062 epileptic patients who had 4007 split screen video EEG investigations revealed that the relation to ...
P Wolf, R Goosses
openaire   +2 more sources

Combined Systemic Immunotherapy and Intrathecal Dexamethasone in Febrile Infection Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher, Alexander Ankar, Jon Cokley, Eyal Muscal, James J. Riviello, Yi‐Chen Lai   +5 more
wiley   +1 more source