Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a CYP27A1 genotype newly identified in morocco: a literature review of African cases [0.03%]
Moroccan病例的临床和影像学特征以及CYP27A1基因型：非洲脑腱黄瘤病病例的文献复习
Amal Ouskri,Hajar Ihlal,Oumayma Lahjouji et al.
Amal Ouskri et al.
First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation [0.03%]
MYCBP2神经系统发育障碍的首次遗传报告：病例及其父母分析
Alice Pham,Jennifer Harmon,Lia K Thibodaux et al.
Alice Pham et al.
MYCBP2-associated neurodevelopmental disorder is an autosomal dominant genetic disorder, previously described with de novo variants. We present the case of a two-generation review of a proband with a maternally inherited heterozygous pathog...
ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review [0.03%]
无高蛋氨酸血症的腺苷 kinase 缺陷症所致难治性癫痫一例及文献复习
Agung Triono,Kristy Iskandar,Neti Nurani et al.
Agung Triono et al.
ADK deficiency, an extremely rare inherited metabolic disorder affecting methylation, is likely underdiagnosed as a cause of epilepsy. The limited number of reported cases and variability in presentation, particularly the absence of hyperme...
Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder [0.03%]
EEF1B2相关神经发育障碍表型谱的扩展：一例同源重组EEF1B2失活变异的同胞病例报告
Serap Ketenci-İşlek,Gizem Ürel-Demir,Gülen Eda Utine et al.
Serap Ketenci-İşlek et al.
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum [0.03%]
ACTB p.(Arg183Trp)变异导致的一例新的 dystonia-耳聋综合征1病例并扩展其临床谱系特征
Silvestre Cuinat,Tiphaine Rouaud,Thomas Besnard et al.
Silvestre Cuinat et al.
Dystonia-deafness syndrome 1 (DDS1) is a rare disorder caused by the p.(Arg183Trp) heterozygous variant in ACTB. Patients present with congenital/early-onset sensorineural deafness, then childhood/adult-onset generalized dystonia. We descri...
Case Reports
Neurogenetics. 2026 Jan 8;27(1):6. DOI:10.1007/s10048-025-00875-y 2026
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene [0.03%]
AAAS基因潜在创始人p.Ser263Pro变异患者的阿尔格罗夫综合征的神经系统表现
Ewa Juścińska,Karolina Gadzalska,Paulina Jakiel et al.
Ewa Juścińska et al.
Allgrove syndrome (AS) is a rare, multisystem, autosomal recessive disorder characterized by the triad of symptoms: achalasia, alacrimia and ACTH-resistant adrenal insufficiency. Various and nonspecific neurological symptoms can also develo...
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test [0.03%]
MCPH帕シュ图族患者ASPM基因筛查发现频繁出现的终止密码子突变p.Trp1326*：建立分子诊断方法的良好标记
Hamna Batool Hashmi,Muhammad Muzammal,Aiman Saleem et al.
Hamna Batool Hashmi et al.
Microcephaly primary hereditary (MCPH) is a rare neurodevelopmental disorder characterized by a reduced head circumference and variable severity of intellectual disability, typically inherited in an autosomal recessive pattern. Mutations in...
Miglustat does not impact clinical progression in patients with spastic paraplegia type 11 [0.03%]
Miglustat不影响遗传性痉挛性截瘫11型患者的疾病进展
Serena Mero,Ivana Ricca,Salvatore Rossi et al.
Serena Mero et al.
Spastic paraplegia type 11 (SPG11) is a progressive neurological condition with no treatment. Possible involvement of abnormal ganglioside metabolism has been reported in mouse and human cells. Preclinical data in zebrafish and fruit fly mo...
Clinical Trial
Neurogenetics. 2025 Dec 22;27(1):3. DOI:10.1007/s10048-025-00874-z 2025
Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort [0.03%]
土耳其小群体自闭症多层基因解析：全外显子组测序、分子核型分析和细胞遗传学分析的见解
Metin Eser,Gulam Hekimoglu,Busra Kutlubay
Metin Eser
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by difficulties in social interactions, communication impairments, repetitive behaviors, and restricted interests. A genetic basis for ASD is now well-established. With...
Márcia Cibele Andrade Dos Santos Ferreira,Benedito Herbert de Souza,Barbara Barbosa Dos Santos Costa et al.
Márcia Cibele Andrade Dos Santos Ferreira et al.