POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

doi:10.1111/epi.18115

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Article

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Epilepsia - 1 Nov 2024

Symonds Joseph D, Park Kristen L, Mignot Cyril, Macleod Stewart, Armstrong Martin, Ashrafian Houman, Bernard Geneviève, Brown Kathleen, Brunklaus Andreas, Callaghan Mary, Classen Georg, Cohen Julie S, Cutcutache Ioana, de Sainte Agathe Jean-Madeleine, Dyment David, Elliot Katherine S, Isapof Arnaud, Joss Shelagh, Keren Boris, Marble Michael, McTague Amy, Osmond Matthew, Page Matthew, Planes Marc, Platzer Konrad, Redon Sylvia, Reese James, Saenz Margarita, Smith-Hicks Constance, Stobo Daniel, Stockhaus Christian, Vuillaume Marie-Laure, Wolf Nicole I, Wakeling Emma L, Yoon Grace, Knight Julian C, Zuberi Sameer M

Abstract excerpt

OBJECTIVE: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy. Three of these...

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PMID: 39348199
DOI: 10.1111/epi.18115

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.PMID 39348199Read ↗

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.Semantic proximity Read ↗

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.Semantic proximity Read ↗

De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Semantic proximity Read ↗

Striatal Variant of POLR3A: Report of Two Indian Cases.Semantic proximity Read ↗

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.Semantic proximity Read ↗

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Semantic proximity Read ↗

Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathySemantic proximity Read ↗

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.Semantic proximity Read ↗

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.Semantic proximity Read ↗

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