Results 151 to 160 of about 713,420 (262)

Balloon cells in type II focal cortical dysplasia: developmental origins, molecular signatures, and epileptogenic mechanisms. [PDF]

Front Cell Dev Biol
Gao Y, Ji X, Feng S, Gao Y, Li L, Wang B, Zhang X, Chen Q.   +7 more
europepmc   +1 more source

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +1 more source

Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 deletion. [PDF]

Brain
Maletic M, Bizzotto S, Ribierre T, Guerdoud K, Raoux C, Doladilhe M, Dalle C, Picard F, Baulac S.   +8 more
europepmc   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

The Capabilities of Multimodal Magnetic Resonance Morphometry to Diagnose Complex Cases of Focal Cortical Dysplasia (Pilot Study). [PDF]

Sovrem Tekhnologii Med
Shevchenko AM, Alsahanova NY, Pogosbekyan EL, Batalov AI, Elagina NE, Kopaneva AA, Bernstein AV, Sharaev MG, Pronin IN.   +8 more
europepmc   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Clinical characteristics and prognosis of focal cortical dysplasia with epilepsy in children. [PDF]

BMC Neurol
Wu J, Tang L, Deng Y, Chen J, Hong S, Jiang L.   +5 more
europepmc   +1 more source

Mosaic KRAS Variant as a Cause of Developmental Eye Anomalies in an Individual With EncephaloCranioCutaneous Lipomatosis

Clinical Genetics, EarlyView.
We describe a girl presenting with structural eye anomalies and a constellation of features suggestive of the mosaic RASopathy EncephaloCranioCutaneous Lipomatosis (ECCL). Tissue‐specific investigations identified a mosaic KRAS variant at a mutational hotspot (p.[Ala146Pro]), prompting appropriate tumour surveillance.
Karthikah Jeganathan, Fabiola Ceroni, Samuel J. H. Clokie, Nicole Motton Hill, Manoj Parulekar, Karl Johnson, Lidiya V. Talbot, Dorine A. Bax, Nicola K. Ragge   +8 more
wiley   +1 more source

Epileptic hub in MRI-negative focal cortical dysplasia using advanced dynamic statistical parametric mapping and magnetoencephalography. [PDF]

Clin Neurophysiol Pract
Hiramatsu Y, Nakajima M, Takeuchi F, Narugami M, Yamada S, Nakakubo S, Goto T, Kimura S, Ueda Y, Fujima N, Hirata K, Ishida Y, Aburakawa Y, Iijima K, Iwasaki M, Enatsu R, Mikuni N, Shiraishi H, Manabe A, Egawa K.   +19 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source