WebOct 24, 2024 · Perturbations in autism spectrum disorder (ASD) risk genes disrupt neural circuit dynamics and ultimately lead to behavioral abnormalities. To understand how … Of the 51 patients on whom information was available regarding treatment, 39/51 (76%) received three or more antiepileptic drugs (AEDs). Ten additional reported patients were drug-resistant, although the number of AEDs trialed was not documented. At last follow-up, 59/70 (84%) patients with seizures … See more All 24 males had developmental delay, observed prior to 1 year of age in 15/18 (83%) (Table 1). Median age of walking was 34 months (range 14 months–6 years). Two boys … See more EEG data (including 21 video EEG data) were available for 63/70 (90%) patients with epilepsy. The predominant findings were generalized … See more Seizures were present in 71/86 (83%) patients, less frequently in males (15/23, 65%) than females (56/63, 89%, p = 0.005). One reported male had electrical seizures without clinical correlate and was not included in our … See more We were able to classify the epilepsy syndrome in 42/44 new patients based on the available data. The most frequent epilepsy syndromes were eyelid myoclonia with absence (EMA), … See more
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, …
WebJan 2, 2024 · The NEXMIF KO mice demonstrate autism-like behaviors including deficits in social interaction, increased repetitive self-grooming, and impairments in communication and in learning and memory. The KO neurons show reduced synapse density and a suppression in synaptic transmission, indicating a role for NEXMIF in regulating synapse development … WebFeb 1, 2024 · NEXMIF pathogenic variants have been known to produce a wide spectrum of X‐linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have ... greasing palms origin
Novel NEXMIF pathogenic variant in a boy with severe …
WebNEXMIF was shown to regulate neurite outgrowth in layer II/III mouse cortical neurons and cultured rat neurons via N-cadherin and -catenin signaling in Gilbert and Man, 2016. … WebSep 9, 2024 · The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently, NEXMIF mutations have been shown to cause a DEE in females, characterized by myoclonic-atonic epilepsy and recurrent nonconvulsive status. Here we used advanced neuroimaging techniques in a patient with a novel NEXMIF de … WebNEXMIF encephalopathy is an X-linked, generalized developmental and epileptic encephalopathy characterized by myoclonic-atonic epilepsy overlapping with eyelid … choose laminate flooring color