Search Results - "Mizuma, Kanako"
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Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality
Published in Brain & development (Tokyo. 1979) (01-04-2023)“…Heterozygous KCNQ2 variants cause benign familial neonatal seizures and early-onset epileptic encephalopathy in an autosomal dominant manner; the latter is…”
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Journal Article -
2
GNAO1 mutation-related severe involuntary movements treated with gabapentin
Published in Brain & development (Tokyo. 1979) (01-04-2021)“…Mutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators…”
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Journal Article -
3
Hypofibrinogenemia caused by adrenocorticotropic hormone for infantile spasms: A case report
Published in Brain & development (Tokyo. 1979) (01-01-2015)“…Abstract We report the case of a 7-month-old boy who developed hypofibrinogenemia (66.6 mg/dL; reference value, 170–405 mg/dL) during adrenocorticotropic…”
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Journal Article -
4
Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study
Published in Journal of the neurological sciences (15-02-2024)“…Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sometimes triggers acute encephalopathy as a serious neurological complication in children. We…”
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Journal Article -
5
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality
Published in Brain & development (01-04-2023)“…BACKGROUNDHeterozygous KCNQ2 variants cause benign familial neonatal seizures and early-onset epileptic encephalopathy in an autosomal dominant manner; the…”
Get full text
Report -
6
GNAO1 mutation-related severe involuntary movements treated with gabapentin
Published in Brain & development (01-04-2021)“…BACKGROUNDMutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel…”
Get full text
Report