Results 141 to 150 of about 2,372,972 (378)
Attenuating midline thalamus bursting to mitigate absence epilepsy [PDF]
, 2023 Ping Dong +7 more
openalex +1 more source
The Faraday Scalpel: Electrochemical Nerve Lesioning Mechanisms Studied in Invertebrate Models
Advanced Science, EarlyView.Direct‐current produces nerve lesioning through discrete electrochemical reactions. Using hypoxia‐sensitive locust nerves and hypoxia‐tolerant leech nerves, we map three injury pathways: cathodic oxygen reduction, cathodic alkalization, and anodic chloride oxidation. These findings establish electrochemical lesioning—the “Faraday Scalpel”—as a precise,
Petra Ondráčková +5 more
wiley +1 more source
Genetics of Absence Epilepsy and Febrile Seizures
Pediatric Neurology Briefs, 2003 In a large family with epilepsy studied at the University of Melbourne, Australia, FS in 18 children were inherited as autosomal dominant with 75% penetrance (GABA receptor subunit mutation on chromosome 5), and absence epilepsy in 8 required the GABA ...
J Gordon Millichap
doaj +1 more source
Use of a new antiepileptic drug or an old one as first drug for treatment of absence epilepsy [PDF]
, 2009 Patricia Penovich, L. James Willmore
openalex +1 more source
Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models
Advanced Science, EarlyView.Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka +9 more
wiley +1 more source
Interhemispheric Functional Connectivity in Childhood Absence Epilepsy
Pediatric Neurology Briefs, 2011 Using a blood oxygen level-dependent resting functional connectivity approach to analyze EEG-fMRI data, the properties of bihemispheric brain networks in 16 patients with childhood absence epilepsy (CAE) were investigated during the interictal period, in
J Gordon Millichap
doaj +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Advances in Pharmacological Sciences, 2011 It is well established that impaired GABAergic inhibition within neuronal networks can lead to hypersynchronous firing patterns that are the typical cellular hallmark of convulsive epileptic seizures.
Adam C. Errington +2 more
doaj +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source