KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it
is widely expressed in the brain and generates M-type current. Exome sequencing identified …

Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum
of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis…

Massively parallel sequencing has revealed many de novo mutations in the etiology of
developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. …

Clinical use of genome‐wide sequencing (GWS) requires pre‐test genetic counseling, but
the availability of genetic counseling is limited. We developed an interactive online decision‐…

Objective: We describe 2 additional patients with early-onset epilepsy with a de novo FGF12
mutation. Methods: Whole-exome sequencing was performed in 2 unrelated patients with …

Background Pathogenic heterozygous variants in the ATP1A2 gene have most commonly
been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes …

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… All calvarial lesions were confirmed on pathology to be non-Hodgkin lymphoma of varying
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Glioblastomas (GBM) are associated with high rates of relapse. These brain tumors are
often resistant to chemotherapies like temozolomide (TMZ) and there are very few treatment …

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