Skip to content
Log in
Sponsored Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt
Case report

A novel FLNA missense variant in a mother–daughter pair with epilepsy: case series evidence of variable multisystem expressivity

A. Bombaci E. Micaglio Sara Benedetti Gianluca Stufano Gianni Cutillo Gabriella Doddato Sergio Soeren Rossi Salvatore Mazzeo C. Pappone Massimo Filippi M. Salsone
Aug 2026 · Neurological Sciences · Vol 47 · 0 citations · 20 references
Medicine

TL;DR

Findings support a likely contributory role of FLNA p.Pro1926Ser in a variably expressive neurodevelopmental and multisystem disorder in which epilepsy represents the predominant neurological phenotype.

DOI PubMed Semantic Scholar
View source

Similar papers

Case report Aug 2026

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.

Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al. · 0 citations
Case report Open access Aug 2026

Clinical and Genetic Findings in a Turkish Family With the Recurrent Homozygous EEFSEC p.Asp390Ala Variant.

The EEFSEC gene encodes eukaryotic elongation factor selenocysteine-tRNA-specific, an essential component of the selenoprotein biosynthesis machinery required for normal neurodevelopment. Biallelic EEFSEC variants have recently been associated with a rare autosomal recessive neurodevelopmental disorder with variable ne...

Kubra Ates, Bülent Kara · 0 citations
Review Open access Aug 2026

Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature

The molecular and phenotypic spectrum of SLC13A3‐related ARLIAK is expanded and the importance of combining sequencing with copy number analysis for accurate diagnosis is underscored, suggesting the need for copy number analysis as part of the diagnostic protocol for suspected ARLIAK cases.

E. Uctepe, Melike Ersoy, F. N. Esen et al. · 0 citations
Case report Open access Jul 2026

A novel mutation in SETD1A is associated with early-onset epilepsy—a rare case report

This study may expand the mutation and phenotypic spectrum of SETD1A-related disorders, establishing the relationship between SETD1A variants and isolated early-onset epilepsy without accompanying severe neurodevelopmental deficits, and highlighting the value of genetic testing in infants with unexplained epilepsy.

Rina Su, Lei Zhu, Lin Jiang et al. · 0 citations
Case report Open access Aug 2026

A Novel de Novo WAC Frameshift Variant in DeSanto-Shinawi Syndrome With Temporo-Occipital Epileptiform Activity and Congenital Cardiac Anomalies.

A 9-year-old male patient presenting with developmental delay, behavioral abnormalities, dysmorphic facial features, epilepsy, and congenital cardiac anomalies is reported, highlighting the importance of detailed neurological, electroencephalographic, cardiac, and genetic evaluation in patients with suspected DESSH.

Burak Yavuz, Soner Uzun, Ayhan Kütükçü et al. · 0 citations
Case report Open access Aug 2026

A case report of a novel de novo variant in PPP2CA causing a neurodevelopmental disorder and epilepsy

The findings support the pathogenicity of this variant and further expand the pathogenic variant spectrum of the PPP2CA gene, and the observed genotype–phenotype correlation provides valuable information for prognosis and genetic counseling.

Lei Xu, Yan-Feng Shen, Guixiang Zhang · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.