Results 171 to 180 of about 22,671 (275)

Differential Diagnosis and Management of Abnormal Posture of the Head and Neck

open access: yesJournal of the Korean Medical Association, 2009
Shin-Young Yim   +3 more
openaire   +1 more source

Spasmus Nutans

open access: yes
Nystagmus and abnormal head posture is a young child with spasmus ...
Neil R. Miller, MD
core  

CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low‐gamma oscillations and seizure susceptibility

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic variants in the calcium/calmodulin‐dependent protein kinase II B gene (CAMK2B) have been associated with neurodevelopmental disorders, including epilepsy, yet the mechanisms underlying cortical dysfunction remain largely unclear.
Hiroki Mutoh   +3 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

open access: yesEpilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz   +2 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

open access: yesEpilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira   +5 more
wiley   +1 more source

Congenital central nervous system malformations in piedmontese calves-part 1. structural brain disorders. [PDF]

open access: yesFront Vet Sci
Ferrini S   +15 more
europepmc   +1 more source

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi   +6 more
wiley   +1 more source

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