Results 21 to 30 of about 87,727 (384)

Microcephaly and Epilepsy

Pediatric Neurology Briefs, 2000
The prevalence of epilepsy and learning disability among various types of microcephaly was determined in a study of 66 cases (age range from 2 to 19 years) at the National Research Centre, Cairo, Egypt, and the Department of Human Genetics and Teratology, National Center for Epidemiology, Budapest, Hungary.
J Gordon Millichap
openalex   +4 more sources

Time is of the essence: the molecular mechanisms of primary microcephaly

Genes & Development, 2021
In this review, Phan et al. discuss the different models that have been proposed to explain how centrosome dysfunction impairs cortical development, and review the evidence supporting a unified model in which centrosome defects reduce cell proliferation ...
Thao P Phan, A. Holland
semanticscholar   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly

Journal of Head & Neck Physicians and Surgeons, 2022
Microcephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying ...
Sinem Yalcintepe, Hazal Sezginer Guler, Drenushe Zhuri, Damla Eker, Hakan Gurkan   +4 more
doaj   +1 more source

Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly

Cells, 2021
Over the past few years, human-specific genes have received increasing attention as potential major contributors responsible for the 3-fold difference in brain size between human and chimpanzee.
M. Heide, W. Huttner
semanticscholar   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Cost-effectiveness of a potential Zika vaccine candidate: a case study for Colombia [PDF]

, 2018
Background: A number of Zika vaccine platforms are currently being investigated, some of which have entered clinical trials. We sought to evaluate the cost-effectiveness of a potential Zika vaccine candidate under the WHO Vaccine Target Product Profile ...
Moghadas, Seyed, Shoukat, Affan, Vilches, Thomas   +2 more
core   +2 more sources

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]

, 2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G., Mancuso G., Martorana C., Montante C., Notarbartolo V., Piro E., Schierz I. A. M., Vanella V.   +7 more
core   +1 more source

Zika virus: New clinical syndromes and its emergence in the western hemisphere [PDF]

, 2016
Zika virus (ZIKV) had remained a relatively obscure flavivirus until a recent series of outbreaks accompanied by unexpectedly severe clinical complications brought this virus into the spotlight as causing an infection of global public health concern.
Brazilian Medical Genetics Society–Zika Embryopathy Task Force, Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, Collaborative Cross Consortium, European Centre for Disease Prevention and Control, European Centre for Disease Prevention and Control, Helen M. Lazear, Michael S. Diamond, T. C. Pierson   +9 more
core   +3 more sources

Small head circumference at birth: an 8-year retrospective cohort study in China

BMJ Paediatrics Open, 2019
Objective Head circumference is considered a reliable assessment of the volume of the underlying brain. We sought to identify risk factors (maternal factors or antenatal antecedents) for microcephaly and to assess the effects of microcephaly on neonatal ...
Wen Sun, Nathalie Auger, Shiliang Liu, Yanmei Pan, Lijuan Dai, Sihui Li, Sushan Xie, Shi Wu Wen, Dunjin Chen   +8 more
doaj   +1 more source