Results 201 to 210 of about 733,442 (314)

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”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

BISeizuRe: BERT-Inspired Seizure Data Representation to Improve Epilepsy Monitoring [PDF]

Luca Benfenati, Thorir Mar Ingolfsson, Andrea Cossettini, Daniele Jahier Pagliari, Alessio Burrello, Luca Benini   +5 more
openalex   +1 more source

Unraveling SUDEP: Mechanisms of Seizure-Induced Cardiac and Respiratory Impairment. [PDF]

Epilepsy Curr
Wenker IC, Gehlbach BK, Isom LL, Dlouhy BJ, Auerbach DS, Maguire JL, Boychuk CR.   +6 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

New-Onset Complex Partial Seizures Progressing to Intractable Epilepsy in a Young Female With Bifrontal Encephalomalacia and a Remote History of Traumatic Brain Injury. [PDF]

Clin Case Rep
Villegas KJ, Sorathia A, Salib M, Escobar J, Conroy N.   +4 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

A Knowledge, Attitude, and Practice Study on Health Literacy and Discharge Preparedness in Patients with Epilepsy: Evidence from a Tertiary Brain Hospital in China. [PDF]

Patient Prefer Adherence
Liu J, Zhou Q, Jiang Z, Chen Y.
europepmc   +1 more source

Temporal lobe epilepsy lateralisation and surgical outcome prediction using diffusion imaging

, 2022
Graham W. Johnson, Leon Y. Cai, Saramati Narasimhan, Hernán F. J. González, Kristin E. Wills, Victoria L. Morgan, Dario J. Englot   +6 more
openalex   +2 more sources

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Comments on: "The 30-Day Risk of Sudden Death in Patients With Epilepsy: A 10-Year Population-Based Cohort Study". [PDF]

J Clin Neurol
Finsterer J.
europepmc   +1 more source