Key Metrics
CiteScore 

4.6
Impact Factor 

< 5
SNIP 

1.18
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Topics Covered on Neurogenetics
Neurogenetics Journal Specifications
| Overview | |
| Publisher | SPRINGER |
| Language | English |
| Frequency | Quarterly |
| General Details | |
| Language | English |
| Frequency | Quarterly |
| Publication Start Year | 1997 |
| Publisher URL | Visit website |
| Website URL | Visit website |
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Recently Published Papers in Neurogenetics
A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.
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ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
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Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder.
- 14 Jan 2026
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Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
- 8 Jan 2026
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First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation
- 1 Jan 2026
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A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.
- 30 Jan 2026
- Neurogenetics
Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a CYP27A1genotype newly identified in morocco: a literature review of African cases.
- 26 Jan 2026
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ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
- 16 Jan 2026
- Neurogenetics
Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder.
- 14 Jan 2026
- Neurogenetics
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
- 8 Jan 2026
- Neurogenetics
First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation
- 1 Jan 2026
- Neurogenetics