Results 181 to 190 of about 33,305 (301)

Successful Management of Refractory Seizures in a Pediatric Patient with DLG3-Associated Epilepsy Using the Ketogenic Diet. [PDF]

Ann Indian Acad Neurol
Balaji BS, Basu S, Manokaran RK, Narasimhan RL, Janardhanam HA.   +4 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches. [PDF]

Neurol Sci
Saad AK, Akawi N.
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Cannabidiol in Developmental Epilepsy: Organoid-Guided Precision Medicine Across Critical Neurodevelopmental Windows. [PDF]

Int J Mol Sci
Joo J, Yang WS, Koh HJ.
europepmc   +1 more source

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

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE. [PDF]

Epilepsia Open
Tchaicha S, Auvin S, Beniczky S, Brunklaus A, Lagae L, Perucca E, Surges R, Adler S, Helmstaedter C, Jansen F, Rubboli G, Ryvlin P, Specchio N, Trinka E, Blümcke I, de Giorgis V, Kotulska K, Lesca G, Malenica M, McTague A, Nabbout R, Møller RS, Arrieta SS, Brambilla I, Kosla M, Braun K, Cross JH, Arzimanoglou A.   +27 more
europepmc   +1 more source

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

JAMA Neurol
Sherrill E, Cheerie D, Beck CJ, Whittle EF, Shafi Y, Chandler NJ, Christodoulou J, Daniel J, Hassell J, Lachgar-Ruiz M, Mulhern S, Scotchman E, Sidhu J, Tedja CF, Chitty LS, Cross JH, Scheffer IE, Zhou H, Yu TW, Chau V, Stephenson SEM, Poduri A, Howell KB, McTague A, Costain G, D'Gama AM, Gene-STEPS Study Group.   +26 more
europepmc   +1 more source

Prognosis of people with focal epilepsy treated with anti-seizure medications (ASMs): a narrative review of current evidence and future directions. [PDF]

BMJ Neurol Open
Barnard S, Foster E, Kwan P, French JA, O'Brien TJ.   +4 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source