Results 111 to 120 of about 222,082 (280)

Absence Epilepsy with Fast Rhythmic Atypical EEG

Pediatric Neurology Briefs, 2001
The medical files of 31 patients with absence epilepsy (AE) were reviewed at La Timone University Hospital, and Henri Gastaut/Saint Paul Hospital, Marseilles, France.
J Gordon Millichap
doaj   +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, Jan Švec, Marie Jakešová, Jiří Ehlich, Imrich Gablech, Eric Daniel Głowacki   +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

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, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +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, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Augmentation of Tonic GABAA Inhibition in Absence Epilepsy: Therapeutic Value of Inverse Agonists at Extrasynaptic GABAA Receptors

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, David W. Cope, Vincenzo Crunelli   +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, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source