[HTML][HTML] If you please, draw me a neuron—linking evolutionary tinkering with human neuron evolution

B Libé-Philippot, F Polleux… - Current Opinion in …, 2024 - Elsevier
Animal speciation often involves novel behavioral features that rely on nervous system
evolution. Human-specific brain features have been proposed to underlie specialized …

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

E Leitão, C Schröder, I Parenti, C Dalle… - Nature …, 2022 - nature.com
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of
inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher …

Chromosome X-wide common variant association study in autism spectrum disorder

M Mendes, DZ Chen, W Engchuan, TP Leal… - The American Journal of …, 2025 - cell.com
Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into
rare (< 0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD …

LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons

B Libé-Philippot, A Lejeune, K Wierda, N Louros… - Cell, 2023 - cell.com
The enhanced cognitive abilities characterizing the human species result from specialized
features of neurons and circuits. Here, we report that the hominid-specific gene LRRC37B …

X-Linked Epilepsies: A Narrative Review

P Bernardo, C Cuccurullo, M Rubino, G De Vita… - International Journal of …, 2024 - mdpi.com
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap
with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy …

Modulating effects of FGF12 variants on NaV1. 2 and NaV1. 6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A …

S Seiffert, M Pendziwiat, T Bierhals, H Goel… - …, 2022 - thelancet.com
Summary Objective Fibroblast Growth Factor 12 (FGF12) may represent an important
modulator of neuronal network activity and has been associated with developmental and …

Prenatal exposure to per-and polyfluoroalkyl substances and DNA methylation in the placenta: A prospective cohort study

Z Xie, S Sun, H Ji, M Miao, W He, X Song… - Journal of Hazardous …, 2024 - Elsevier
Epidemiological studies regarding the relationship between per-and polyfluoroalkyl
substances (PFAS) and DNA methylation were limited. We investigated the associations of …

Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism

S Lin, AR Gade, HG Wang, JE Niemeyer, A Galante… - eLife, 2025 - elifesciences.org
Developmental and epileptic encephalopathies (DEEs), a class of devastating neurological
disorders characterized by recurrent seizures and exacerbated by disruptions to …

The intracellular interplay between galectin-1 and FGF12 in the assembly of ribosome biogenesis complex

A Gędaj, A Chorążewska, K Ciura, R Karelus… - Cell Communication and …, 2024 - Springer
Galectins constitute a class of lectins that specifically interact with β-galactoside sugars in
glycoconjugates and are implicated in diverse cellular processes, including transport …

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

DL Narayanan, P Majethia, A Shrikiran… - European journal of …, 2022 - Elsevier
Developmental and epileptic encephalopathies (DEE) are a genetically heterogeneous
group of disorders characterised by early onset epilepsy, epileptiform activity on …