Autosomal dominant Kufs disease in a Georgian adult woman: A case report
Progressive myoclonic epilepsies (PMEs) are a diverse group of neurodegenerative disorders characterized by myoclonus, seizures, and progressive cognitive and motor decline. This report presents a case of a subtype of PME, autosomal dominant Kufs disease (NCL type 4) documented for the first time ou...
Saved in:
Main Authors: | Nikoloz Papiashvili, Sopio Gagua, Nana Gonjilashvili, Natela Okujava, Aleksandre Tsereteli |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2025-12-01
|
Series: | Epilepsy & Behavior Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986425000656 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A clinical case of neuronal ceroid lipofuscinosis type 2
by: L. S. Kraeva, et al.
Published: (2020-01-01) -
LAPAROSCOPIC NEPHRECTOMY IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
by: O. N. Reznik, et al.
Published: (2016-11-01) -
A clinical case of autosomal recessive agammaglobulinemia with B-cell deficiency
by: E. V. Negodnova, et al.
Published: (2024-01-01) -
Results of kidney transplantation in patients with end-stage renal failure caused by autosomal dominant polycystic kidney disease
by: V. S. Daineko, et al.
Published: (2019-07-01) -
Population Genetics Data of 21 Autosomal STR Loci in the Romanian Population
by: George Popoiu, et al.
Published: (2025-05-01)