Results 61 to 70 of about 26,795 (236)

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Hypothyroidism-induced Reversible Encephalopathy as a Cause of Aggravation of Parkinsonism and Myoclonus in Parkinson’s Disease

Tremor and Other Hyperkinetic Movements, 2017
Background: Myoclonus and encephalopathy are unusual in patients with Parkinson’s disease (PD). Case report: We describe the case of a 59-year-old male with PD who developed myoclonus and encephalopathy.
Gwanhee Ehm, Han-Joon Kim, Beomseok Jeon
doaj   +1 more source

To study the effect of three different doses of dexmedetomidine as premedication on the incidence and severity of etomidate-induced myoclonus

The Indian Anaesthetists' Forum, 2023
Background and Aims: Etomidate, a carboxylated imidazole is a rapid-acting nonbarbiturate, nonopioid hypnotic agent that has unique hemodynamic stability, favorable toxic profile, and rapid recovery after a single dose.
Ketki Kaushal, Anita Kumari, Pooja Abbi, Ruchi Gupta   +3 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Genetic myoclonus [PDF]

Myoclonus are brief, involuntary jerks that can occur continuously in the whole body. The jerks are caused by overactive nerves and have many different causes.
van der Veen, Sterre; id_orcid
core   +1 more source

Semiologia e classificação das mioclonias.

Acta Médica Portuguesa, 1995
Myoclonus can present itself in various distinct clinical contexts. The authors review the possible different types of myoclonus, as a single manifestation or included in a syndrome, based on a semiological and aetiological classification.
R Almeida, M Gonçalves, J P Viana, J C Beirão   +3 more
doaj   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Lipid‐based Nano‐delivery systems as a promising strategy for the treatment of epilepsy: Current status and challenges

Epilepsia Open, EarlyView.
Abstract Objective Epilepsy is a prevalent chronic neurological disorder characterized by abnormal neuronal electrical activity. The primary treatment modality for individuals with epilepsy (PWE) is antiseizure medication (ASM). The multiple potential factors contributing to treatment resistance in epilepsy may be attributed to the inability of ASMs to
Priya Kannan Varshini, Arunachalam Divya, Kumar Sowndharya, Parthiban Jeevitha, Selvam Manoj, Ashiq Rahman, Athil Ahamed, Ravichandiran Abirahul, Paranthaman Subash, Sulekha Khute   +9 more
wiley   +1 more source

Myoclonus and myoclonic seizures [PDF]

, 1999
Myoclonus has been defined as a sudden, involuntary, brief, shock-like muscle contraction arising from the central nervous system (CNS) [Fahn et al., 1986]. Myoclonus may be focal or generalized, single or repetitive, rhythmic or irregular.
Baram, Tallie Z
core