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SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
Recent progress in genetic analysis reveals that a significant proportion of cryptogenic epileptic encephalopathies are single-gene disorders. ...The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual a …
Recent progress in genetic analysis reveals that a significant proportion of cryptogenic epileptic encephalopathies are single …
Mutations in TAF8 cause a neurodegenerative disorder.
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Wong KM, et al. Brain. 2022 Sep 14;145(9):3022-3034. doi: 10.1093/brain/awac154. Brain. 2022. PMID: 35759269 Review.
Cerebral imaging showed hypomyelination, a thin corpus callosum and brain atrophy. Moreover, repeated imaging in the sibling pair demonstrated progressive cerebral and cerebellar atrophy. Consistently, reduced N-acetylaspartate, a marker …
Cerebral imaging showed hypomyelination, a thin corpus callosum and brain atrophy. Moreover, repeated imaging in the si …
Aicardi-Goutieres syndrome: differential diagnosis and aetiopathogenesis.
Lanzi G, D'Arrigo S, Drumbl G, Uggetti C, Fazzi E. Lanzi G, et al. Funct Neurol. 2003 Apr-Jun;18(2):71-5. Funct Neurol. 2003. PMID: 12911136 Review.
Aicardi-Goutieres syndrome (AGS) is a progressive encephalopathy with onset in the first year of life and a recessive autosomal pattern of inheritance. ...AGS is diagnosed on the basis of a clinical picture characterised by microcephaly and by the onse …
Aicardi-Goutieres syndrome (AGS) is a progressive encephalopathy with onset in the first year of life and a recessive a …
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.
Barth PG. Barth PG. Brain Dev. 1993 Nov-Dec;15(6):411-22. doi: 10.1016/0387-7604(93)90080-r. Brain Dev. 1993. PMID: 8147499 Review.
Cerebellar hypoplasia is common to a variety of congenital disorders. Both stable conditions and progressive (degenerative) disorders may cause cerebellar hypoplasia. ...In type 2 the hallmark is the presence of chorea/dystonia, which is often severe, while s …
Cerebellar hypoplasia is common to a variety of congenital disorders. Both stable conditions and progressive (degenerative) di …
[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
Shen YW, Weng ZF, He W, Chen YH, Wang QH, Zou LP, Liu LY, Shang-Guan HK. Shen YW, et al. Zhonghua Er Ke Za Zhi. 2020 Dec 2;58(12):1006-1012. doi: 10.3760/cma.j.cn112140-20200603-00571. Zhonghua Er Ke Za Zhi. 2020. PMID: 33256324 Review. Chinese.
She was seizures free now with clobazam and zonisamide treatment. All of them manifested as a syndrome composed of severe global developmental retardation, progressive microcephaly, hypotonia from the very beginning, mild hypoproteinemia and diffuse …
She was seizures free now with clobazam and zonisamide treatment. All of them manifested as a syndrome composed of severe glob …
Delineating the epilepsy phenotype of NRROS-related microgliopathy: A case report and literature review.
Madaan P, Kaushal Y, Srivastava P, Crow YJ, Livingston JH, Ahuja C, Sankhyan N. Madaan P, et al. Seizure. 2022 Aug;100:15-20. doi: 10.1016/j.seizure.2022.06.001. Epub 2022 Jun 11. Seizure. 2022. PMID: 35716448 Free article. Review.
METHODS: We report a child presenting with infantile spasms syndrome (ISS) with subsequent progressive neurodegeneration who was identified to harbour a novel likely pathogenic NRROS variant (c.1359del; p.Ser454Alafs*11). ...Intracranial calcifications were describe …
METHODS: We report a child presenting with infantile spasms syndrome (ISS) with subsequent progressive neurodegeneration who w …
A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.
Jahanpanah M, Mokhtari D, Mokaber H, Arish S, Ahmadabadi F, Davarnia B. Jahanpanah M, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2424. doi: 10.1002/mgg3.2424. Mol Genet Genomic Med. 2024. PMID: 38546112 Free PMC article. Review.
BACKGROUND: The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, …
BACKGROUND: The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rar …
Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases.
Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain O, Santini JJ. Billard C, et al. Neuropediatrics. 1989 Feb;20(1):12-9. doi: 10.1055/s-2008-1071258. Neuropediatrics. 1989. PMID: 2654691 Review.
A four-group classification is proposed. The first group includes encephalopathy, microcephaly, dwarfism, retinal degeneration or optic atrophy, symmetrical patchy demyelination with calcifications and probable autosomal recessive inheritance. ...In the third …
A four-group classification is proposed. The first group includes encephalopathy, microcephaly, dwarfism, retinal degeneration …