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2. Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. Cao A; Cianchetti C; Signorini E; Loi M; Sanna G; De Virgiliis S Clin Genet; 1977 Nov; 12(5):290-6. PubMed ID: 589850 [TBL] [Abstract][Full Text] [Related]
3. Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. Marini C; Hardies K; Pisano T; May P; Weckhuysen S; Cellini E; Suls A; Mei D; Balling R; Jonghe PD; Helbig I; Garozzo D; ; Guerrini R Am J Med Genet A; 2017 Apr; 173(4):1119-1123. PubMed ID: 28328131 [TBL] [Abstract][Full Text] [Related]
9. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Mulkey SB; Ben-Zeev B; Nicolai J; Carroll JL; Grønborg S; Jiang YH; Joshi N; Kelly M; Koolen DA; Mikati MA; Park K; Pearl PL; Scheffer IE; Spillmann RC; Taglialatela M; Vieker S; Weckhuysen S; Cooper EC; Cilio MR Epilepsia; 2017 Mar; 58(3):436-445. PubMed ID: 28139826 [TBL] [Abstract][Full Text] [Related]
10. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. Fichera M; Failla P; Saccuzzo L; Miceli M; Salvo E; Castiglia L; Galesi O; Grillo L; Calì F; Greco D; Amato C; Romano C; Elia M Hum Genet; 2019 Feb; 138(2):187-198. PubMed ID: 30656450 [TBL] [Abstract][Full Text] [Related]
11. [Infantile spasms in monozygotic twins with Smith-Lemli-Opitz syndrome type I]. Itokazu N; Ohba K; Sonoda T; Ohdo S No To Hattatsu; 1992 Sep; 24(5):485-90. PubMed ID: 1389333 [TBL] [Abstract][Full Text] [Related]
12. Benign myoclonus of early infancy or benign non-epileptic infantile spasms. Dravet C; Giraud N; Bureau M; Roger J; Gobbi G; Dalla Bernardina B Neuropediatrics; 1986 Feb; 17(1):33-8. PubMed ID: 3960282 [TBL] [Abstract][Full Text] [Related]
13. [West syndrome in monozygotic twins]. Zerati E; Seba Júnior A Arq Neuropsiquiatr; 1990 Sep; 48(3):351-4. PubMed ID: 2176075 [TBL] [Abstract][Full Text] [Related]
14. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. Babkina N; Deignan JL; Lee H; Vilain E; Sankar R; Giurgea I; Mowat D; Graham JM Eur J Med Genet; 2016 Feb; 59(2):70-4. PubMed ID: 26721324 [TBL] [Abstract][Full Text] [Related]
15. Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Ohtsuka Y; Oka E; Terasaki T; Ohtahara S Epilepsia; 1993; 34(4):627-34. PubMed ID: 8330572 [TBL] [Abstract][Full Text] [Related]
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17. Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. Ben-Zeev B; Hoffman C; Lev D; Watemberg N; Malinger G; Brand N; Lerman-Sagie T J Med Genet; 2003 Aug; 40(8):e96. PubMed ID: 12920088 [No Abstract] [Full Text] [Related]
18. Sjögren-Larsson syndrome: physical and neurological features. A survey of 35 patients. Jagell S; Heijbel J Helv Paediatr Acta; 1982; 37(6):519-30. PubMed ID: 7166487 [TBL] [Abstract][Full Text] [Related]
19. [West syndrome associated with epileptic negative myoclonus]. Shibata T; Yoshinaga H; Oka M; Kobayashi K No To Hattatsu; 2014 Sep; 46(5):354-8. PubMed ID: 25403066 [TBL] [Abstract][Full Text] [Related]
20. [Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2]. Terczyńska I; Mierzewska H; Szczepanik E; Antczak-Marach D Przegl Lek; 2010; 67(9):757-61. PubMed ID: 21387820 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]