[HTML][HTML] The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
Purpose: Loss-of-function mutations of CTNNB1 have been established as the cause of
neurodevelopmental disorder with spastic diplegia and visual defects. Although most …
neurodevelopmental disorder with spastic diplegia and visual defects. Although most …
ZNF142 mutation causes sex-dependent neurologic disorder
R Proskorovski-Ohayon, M Eskin-Schwartz… - Journal of Medical …, 2024 - jmg.bmj.com
Background Sex-specific predilection in neurological diseases caused by mutations in
autosomal genes is a phenomenon whose molecular basis is poorly understood. We …
autosomal genes is a phenomenon whose molecular basis is poorly understood. We …
[HTML][HTML] Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences
Objective Individuals with neurodevelopmental disorders such as global developmental
delay (GDD) present both genotypic and phenotypic heterogeneity. This diversity has …
delay (GDD) present both genotypic and phenotypic heterogeneity. This diversity has …
Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention
Ogden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare
genetic condition associated with pathogenic variants in the NAA10 N-terminal acetylation …
genetic condition associated with pathogenic variants in the NAA10 N-terminal acetylation …
Hemimegalencephaly: A Systematic Comparison of Functional and Anatomic Hemispherectomy for Drug-Resistant Epilepsy
K Goel, A Ghadiyaram, A Krishnakumar… - …, 2024 - journals.lww.com
METHODS: PubMed, Web of Science, and Cumulative Index to Nursing and Allied Health
Literature were searched from inception to Jan 13th, 2023, for primary literature reporting …
Literature were searched from inception to Jan 13th, 2023, for primary literature reporting …
[PDF][PDF] A Rare Case of a Subgaleal Hematoma With Global Developmental Delay, Scurvy, and Congenital Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Simplex …
A Patel, JD Vagha, RJ Meshram, R Khandelwal… - Cureus, 2024 - cureus.com
This case report details the complex presentation of a six-year-old female child with global
developmental delay (GDD), scurvy, congenital toxoplasmosis, rubella, cytomegalovirus …
developmental delay (GDD), scurvy, congenital toxoplasmosis, rubella, cytomegalovirus …
Diagnostic utility of pediatric epilepsy monitoring unit: Retrospective single center study
R Al-Bradie, JA Jarad, AR Bokhari, DK Maddallah… - Neurosciences …, 2023 - nsj.org.sa
Objective: To evaluate drug resistance epilepsy (DRE) patients with persistent seizures after
using of standard antiepileptic drugs. This single center study aimed to investigate the utility …
using of standard antiepileptic drugs. This single center study aimed to investigate the utility …
[PDF][PDF] The Clinical, Etiological, and Demographic Profile of Children Aged 1 to 14 Years with Seizures Attending a Tertiary Care Hospital in Gwalior District, India: A …
MD Vasudevan Mani, MD Ghanshyam Das… - Ann Child …, 2024 - researchgate.net
Purpose: The clinical profile of seizures among children exhibits ethnic and geographical
variations. The objective of this study was to examine the clinical, etiological, and …
variations. The objective of this study was to examine the clinical, etiological, and …
The Prognostic Factors Influencing Outcomes in Infantile Seizure with Onset in the First Year of Life: A Single Centre Retrospective Study in the State of Kelantan …
MAB Anuar, Z Abidin, SH Tan, CF Yeap… - … Onset in the First Year of … - papers.ssrn.com
Introduction: Epilepsy has a high incidence in the first year of life and its course is highly
variable. There are limited studies on infantile-onset epilepsy, excluding infantile spasms, in …
variable. There are limited studies on infantile-onset epilepsy, excluding infantile spasms, in …