Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.12.007
Abstract: OBJECTIVE To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment. METHODS Using the literature, we investigated clinical details of FHM in… read more here.
Keywords: treatment; familial hemiplegic; prrt2 mutation; hemiplegic migraine ... See more keywords
Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-1863-1798
Abstract: Microdeletion in the 16p11.2 loci lead to a distinct neurodevelopmental disorder with intellectual disability and autism spectrum disorder in addition to dysmorphia, macrocephaly and increased body mass index (BMI). One of the deleted genes in… read more here.
Keywords: haploinsufficiency prrt2; hemiplegic migraine; familial hemiplegic; migraine ... See more keywords
Deciphering in silico the Role of Mutated NaV1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2021.644047
Abstract: Familial hemiplegic migraine type 3 (FHM3) is caused by gain-of-function mutations in the SCN1A gene that encodes the α1 subunit of voltage-gated NaV1.1 sodium channels. The high level of expression of NaV1.1 channels in peripheral… read more here.
Keywords: migraine; familial hemiplegic; nav1 sodium; migraine type ... See more keywords