Results 51 to 60 of about 2,255 (147)
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 7, Page 1304-1317, July 2025.Abnormal cavum septi pellucidi is the most common indirect sign of partial agenesis of corpus callosum (pACC). A cystic mass in the midline that communicates with the third ventricle may be an indirect sign of pACC. PACC is highly associated with intra‐ and extracranial malformations.
Changrong Zhou +8 more
wiley +1 more source
Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly
Epilepsia, Volume 66, Issue 6, Page 2099-2109, June 2025.Abstract Objective Mutations in genes of the mTOR pathway have been identified as a major cause of hemimegalencephaly (HMG), focal cortical dysplasia type II, and tuberous sclerosis, cortical malformations associated with epilepsy. These conditions are characterized at the cellular level by increased size of pyramidal neurons that grow with dysmorphic ...
Antoinette‐Bernabe Gelot +8 more
wiley +1 more source
Neurobiology of Disease, 2010 Lissencephaly–pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the LIS1, DCX, ARX, TUBA1A and RELN genes have been associated with these malformations ...
Renzo Guerrini, Elena Parrini
doaj +1 more source
Prenatal Diagnosis of Proteus Syndrome: About a Case
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
Luana Giovannangeli +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.ABSTRACT Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile‐onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic.
Sara Gracie +12 more
wiley +1 more source
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
Clinical Genetics, Volume 107, Issue 3, Page 311-322, March 2025.We report two unrelated families with biallelic variants in LRRC45 and show impaired ciliogenesis in patient cells. We propose that defects in LRRC45 lead to a novel subtype of ciliopathy with developmental abnormalities of the brain. Taken together this study adds to a growing body of evidence for the physiological relevance of distal appendage ...
Periyasamy Radhakrishnan +14 more
wiley +1 more source
Intake of High‐Calorie Diet and Phytonutrients: A New Paradigm to Treat Cerebral Palsy in Children
eFood, Volume 6, Issue 1, February 2025.This paper highlights the interdisciplinary nature of CP management, emphasizing the importance of collaboration among neurologists, rehabilitation specialists, and other healthcare professionals to address the wide range of co‐morbidities associated with the condition.
Tabussam Tufail +7 more
wiley +1 more source
Exome sequencing in Nigerian children with early‐onset epilepsy syndromes
Epilepsia Open, Volume 10, Issue 1, Page 222-232, February 2025.Abstract Objective Nigeria, along with other Sub‐Saharan African countries, bears the highest burden of epilepsy worldwide. This high prevalence is attributed to a combination of factors, including a significant incidence of infectious diseases, perinatal complications, and genetic etiologies.
Ibitayo Abigail Ademuwagun +7 more
wiley +1 more source
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia
Case Reports in Neurology, 2017 Background: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations.
Joshua T. Geiger +4 more
doaj +1 more source
Cortical Gyrification and Cognitive Decline in the Human Brain With Type 2 Diabetes Mellitus
Brain and Behavior, Volume 15, Issue 1, January 2025.The relationship between fasting blood glucose and working memory in patients with type 2 diabetes is partially mediated by cortical gyrification of the right temporal pole. This study suggests that strengthening blood glucose level management through lifestyle intervention may be an effective method to alleviate cognitive decline in elderly patients ...
Weiye Lu +8 more
wiley +1 more source