Results 181 to 190 of about 381,708 (311)

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Prediction of personalized antiseizure medications response based on clinical signatures in epilepsy. [PDF]

Sci Rep
Park KI, Shin Y, Hwang S, Kim YJ, Lee SB, Son H, Moon J, Lee ST, Jung KH, Chu K, Jung KY, Kim YG, Lee SK.   +12 more
europepmc   +1 more source

ON SENSORY EPILEPSY [PDF]

, 1886
James Robert Anderson
openalex   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

A retrospective cohort study of valproate and infertility in men with epilepsy or bipolar disorder using international health data. [PDF]

Nat Commun
Mbizvo GK, Duncan SE, Nancarrow L, Sagarino T, Watkins LV, Mbizvo MT, Lip GYH, Marson AG.   +7 more
europepmc   +1 more source

Epilepsy in School Children [PDF]

, 1953
Peter R. Henderson
openalex   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Precision medicine for epilepsy: challenges and perspectives for an optimized clinical care pathway. [PDF]

Front Neurol
Morita-Sherman M, Trinka E, Kwan P, Ikeda A, Cho M, Hampel H.   +5 more
europepmc   +1 more source

Remarks on Senile Epilepsy [PDF]

, 1894
E. M. Sympson
openalex   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca E. Russell   +4 more
wiley   +1 more source