Alterations of functional connectivity density in a Chinese family with a mild phenotype associated with a novel inherited variant of SCN8A

scientific article published on 10 September 2020

Alterations of functional connectivity density in a Chinese family with a mild phenotype associated with a novel inherited variant of SCN8A is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.YEBEH.2020.107379
P698PubMed publication ID32920374

P2093author name stringLiang Yu
Cheng Luo
Qiong Zhu
Jiyun Yang
Sisi Jiang
P2860cites workSodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapsesQ24653551
SCN8A encephalopathy: Research progress and prospectsQ33866136
Functional connectivity density mappingQ34006786
Motor co-activation in siblings of patients with juvenile myoclonic epilepsy: an imaging endophenotype?Q34044039
Molecular identity of dendritic voltage-gated sodium channelsQ34115269
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
The phenotypic spectrum of SCN8A encephalopathyQ35106483
Altered microstructural connectivity in juvenile myoclonic epilepsy: the missing linkQ35948522
Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosaQ36901097
Aberrant long-range functional connectivity density in generalized tonic-clonic seizuresQ37205702
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disabilityQ39027820
Complex discharge-affecting networks in juvenile myoclonic epilepsy: A simultaneous EEG-fMRI studyQ39782946
Loss-of-function variants of SCN8A in intellectual disability without seizuresQ40949618
Temporal Cortex Morphology in Mesial Temporal Lobe Epilepsy Patients and Their Asymptomatic Siblings.Q41598039
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresQ41704860
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardationQ43168798
MRI-based brain structure volumes in temporal lobe epilepsy patients and their unaffected siblings: a preliminary study.Q44758084
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and TerminologyQ46206411
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutationQ47938595
Pathological uncoupling between amplitude and connectivity of brain fluctuations in epilepsyQ48227331
Cognitive and behavioral effects of antiepileptic drugsQ48378156
Low- and high-frequency oscillations reveal distinct absence seizure networksQ48649812
Early-onset epileptic encephalopathy with de novo SCN8A mutationQ50057553
A relatively mild phenotype associated with mutation of SCN8A.Q50059945
Autosomal dominant SCN8A mutation with an unusually mild phenotype.Q50510460
Comparing an Individual's Test Score Against Norms Derived from Small SamplesQ64140989
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disabilityQ90919218
The phenotype of SCN8A developmental and epileptic encephalopathyQ91254066
Abnormal hippocampal structure and function in juvenile myoclonic epilepsy and unaffected siblingsQ92308762
The spectrum of intermediate SCN8A-related epilepsyQ92995751
P304page(s)107379
P577publication date2020-09-10
P1433published inEpilepsy BehaviorQ15746410
P1476titleAlterations of functional connectivity density in a Chinese family with a mild phenotype associated with a novel inherited variant of SCN8A
P478volume112

Search more.