Results 71 to 80 of about 1,575,471 (293)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Automated hippocampal segmentation in patients with epilepsy: Available free online [PDF]

, 2013
Hippocampal sclerosis, a common cause of refractory focal epilepsy, requires hippocampal volumetry for accurate diagnosis and surgical planning. Manual segmentation is time-consuming and subject to interrater/intrarater variability.
Behr, C, Williams, EJ, Burdett, JL, Cardoso, MJ, Ourselin, S, Bartlett, PA, Espak, M, Duncan, JS, Winston, GP   +8 more
core  

Lateralizing Signs in Partial Epilepsy

Pediatric Neurology Briefs, 2006
Lateralizing signs (LSs) in 100 children of 12 or
J Gordon Millichap
doaj   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Benign Partial Epilepsy in Infancy

Pediatric Neurology Briefs, 1996
The frequency of occurrence of benign partial epilepsy in infancy (BPEI) in a first line general hospital was determined among 75 patients presenting with epilepsy in the first 2 years of age and evaluated between 1987 and 1993 at the Departments of ...
J Gordon Millichap
doaj   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 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

Report of the 2003 National Conference on Public Health and Epilepsy [PDF]

I. Executive Summary -- II. Introduction -- III. Living Well with Epilepsy II Conference -- -- IV. Review and Recommendations -- -- Workgroup A: Early Recognition, Diagnosis and Treatment -- -- Workgroup B: Epidemiology and Surveillance -- -- Workgroup C:
National Conference on Public Health and Epilepsy (2003 : Baltimore, MD)
core  

Partial Epilepsy with Auditory Features

Pediatric Neurology Briefs, 2004
The clinical characteristics of 53 sporadic (S) cases of idiopathic partial epilepsy with auditory features (IPEAF) were analyzed and compared to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF)
J Gordon Millichap
doaj   +1 more source