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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal dominant 73"
Page 1
Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P. Lagorio I, et al. Seizure. 2019 Apr;67:73-77. doi: 10.1016/j.seizure.2019.03.009. Epub 2019 Mar 19. Seizure. 2019. PMID: 30928698 Free article. Review.
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. ...Pho …
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant …
Benign familial neonatal convulsions: always benign?
Steinlein OK, Conrad C, Weidner B. Steinlein OK, et al. Epilepsy Res. 2007 Mar;73(3):245-9. doi: 10.1016/j.eplepsyres.2006.10.010. Epub 2006 Nov 28. Epilepsy Res. 2007. PMID: 17129708
BACKGROUND: Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant seizure disorder usually described to be characterized by a benign course, spontaneous remission and normal psychomotor development. ...CONCLUSIONS: Our data raise the …
BACKGROUND: Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant seizure disorder usually described …
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD. Matthews AM, et al. Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1. Eur J Med Genet. 2017. PMID: 28778789
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alte …
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequenc …
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S. Kurihara M, et al. Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4. Cerebellum. 2018. PMID: 28895081
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myoc …
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. …