Research map: Chorea‐Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant

Papers in this map

1. The pattern and diagnostic criteria of sensory neuronopathy: a case-control study · J.-P. Camdessanché · 2009 · 259 citations · Cited by this paper
2. Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants · 2026 · Related
3. Neuroacanthocytosis Syndromes · Hans Heinrich Jung · 2011 · 178 citations · Cited by this paper
4. Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans · 2026 · Related
5. Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS 13A gene mutation · Felix Benninger · 2016 · 22 citations · Cited by this paper
6. Hereditary Polyneuropathy Experience of a Tertiary Single‐Center in Türkiye: Beyond the Tip of the Iceberg · 2026 · Related
7. Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation · 2026 · Related
8. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p. Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome) · 2026 · Related
9. Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval · 2026 · Related
10. WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes · 2026 · Related
11. Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly · 2026 · Related
12. Non‐Coding c.* 6C >T Variant in RBM8A Associated With Thrombocytopenia‐Absent Radius ( TAR ) Syndrome in Three Indian Patients · 2026 · Related
13. From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy · 2026 · Related

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