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

• Authors : Symonds, Joseph D. (AUTHOR); Park, Kristen L. (AUTHOR); Mignot, Cyril (AUTHOR)

Subjects: GENETIC variation; MEDICAL genetics; VALPROIC acid

• Source: Epilepsia (Series 4). Nov2024, Vol. 65 Issue 11, p3303-3323. 21p.

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A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.

• Authors : Pourahmadiyan, Azam (AUTHOR); Heidari, Morteza (AUTHOR); Shojaaldini Ardakani, Hossein (AUTHOR)

Subjects: GENETIC variation; MEDICAL genetics; MEDICAL genomics

• Source: International Journal of Neuroscience. Sep2021, Vol. 131 Issue 9, p875-878. 4p.

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Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort.

• Authors : Zorzi, Giovanna¹ (AUTHOR); Zibordi, Federica¹ (AUTHOR); Sorrentino, Ugo^2,3,4 (AUTHOR)

Subjects: *MEDICAL genetics; *GENETIC variation; *HUMAN genetics

• Source: Movement Disorders. Aug2024, p1. 3p.

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Attention to Hypotonic Infant: Zellweger Family with Pathogenic Compound Heterozygous c.1804-2A>G and c.3693_3696delGTCA(p.Gln1231Hisfs)rs769836601 Variation in the PEX1 Gene.

• Authors : Eröz, Recep¹; Kurt, Fatih²; Akalın, Hilal³

Subjects: *MEDICAL genetics; *INFANTS; *NUCLEOTIDE sequencing

• Source: Gazi Medical Journal. 2024 Supplement, Vol. 35, p64-66. 3p.

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Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy‐associated genetic missense variants.

• Authors : Montanucci, Ludovica^1,2 (AUTHOR); Brünger, Tobias³ (AUTHOR); Boßelmann, Christian M.^4,5 (AUTHOR)

Subjects: *MEDICAL genetics; *MISSENSE mutation; *MOLECULAR pathology

• Source: Epilepsia (Series 4). Oct2024, p1. 9p. 3 Illustrations.

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GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.

• Authors : Absalom, Nathan L.^1,2 (AUTHOR); Lin, Susan X. N.² (AUTHOR); Liao, Vivian W. Y.² (AUTHOR)

Subjects: *MEDICAL genetics; *MEDICAL genomics; *GENETIC variation

• Source: Journal of Neurochemistry. Dec2024, Vol. 168 Issue 12, p3831-3852. 22p.

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Third-generation computational approaches for genetic variant interpretation.

• Authors : Costain, Gregory^1,2,3 (AUTHOR); Andrade, Danielle M^4,5 (AUTHOR)

Subjects: *GENETIC variation; *MEDICAL genetics; *PROTEIN structure prediction

• Source: Brain: A Journal of Neurology. Feb2023, Vol. 146 Issue 2, p411-412. 2p.

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[SOME PRACTICAL ACHIEVEMENTS IN MEDICAL GENETICS].

• Authors : EFROIMSON VP

Subjects: Achievement* ; Chromosome Aberrations* ; Chromosome Disorders*

• Source: Vestnik Akademii meditsinskikh nauk SSSR [Vestn Akad Med Nauk SSSR] 1963; Vol. 18, pp. 14-22.Publisher: Izd-vo Akademii medit︠s︡inskikh nauk SSSR Country of Publication: Russia (Federation) NLM ID: 7506153 Publication Model: Print Cited Medium:

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Genetic mechanisms that underlie epilepsy.

• Authors : Steinlein, Ortrud K.

Subjects: EPILEPSY; MEDICAL genetics; BIOLOGICAL neural networks

• Source: Nature Reviews Neuroscience. May2004, Vol. 5 Issue 5, p400-408. 9p. 1 Black and White Photograph, 4 Diagrams, 2 Charts.

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Data on Medical Genetics Discussed by Researchers at Kyushu University (Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature)

• Source: Obesity, Fitness & Wellness Week. May 2, 2020, 1297

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