Hereditary epilepsy

Identifies mutations within genes known to be associated with inherited epilepsy or seizure disorder, allowing for predictive testing of at-risk family members. ; Offers greater breadth and depth of coverage for every base at each exon in every gene. ; Enables 100% sensitivity and 99.9% specificity for the detection of CNVs through use of an internally developed algorithm for CNV detection combined with a high depth of coverage.

Epilepsy

Video · Diagnostic Exploratory Testing ; Video · Predictors to Direct Neural Antibody Testing in Autoimmune Encephalitis/Epilepsy ; Answers From the Lab · Assay identifies biomarker of autoimmune encephalitis subtype

Juvenile Myoclonic Epilepsy - StatPearls - NCBI Bookshelf

Juvenile myoclonic epilepsy (JME), otherwise known as Janz syndrome and impulsive petit mal, is an idiopathic, hereditary, and generalized form of epilepsy. It was first described by Herpin in 1867...

유전성 운동실조 (Hereditary Ataxia)

KCD코드: G11.8, 질환명: 기타 유전성 운동실조 Other hereditary ataxias, 환자등록기준: 신규등록 재등록 ; KCD코드: G11.9, 질환명: 상세불명의 유전성 운동실조 Hereditary ataxia, unspecified, 환자등록기준: 신규등록 재등록 ; KCD코드: G11.9, 질환명: 유전성 소뇌의 변성 Hereditary cerebellar degeneration, 환자등록기준: 신규등록 재등록 ; KCD코드: G11.9, 질환명: 유전성 소뇌의 병 Hereditary cerebellar disease, 환자등록기준: 신규등록 재등록 ; KCD코드: G11.9, 질환명: 유전성 소뇌의 증후군 Hereditary cerebellar syndrome, 환자등록기준: 신규등록 재등록

Hereditary primary reading epilepsy

Hereditary primary reading epilepsy Neurology. 1967 Sep;17(9):919-21. doi: 10.1212/wnl.17.9.919. Authors W B Matthews, F K Wright PMID: 6069093 DOI: 10.1212/wnl.17.9.919 No abstract...

Hereditary epilepsy

遺伝性てんかんまたは発作性障害に関連することが知られている遺伝子内の変異を同定し、リスクのある家系員の予測検査を可能にする。 ; すべての遺伝子の各エクソンのすべての塩基について、より幅広くより深くカバーできます。 ; 社内で開発したCNV検出アルゴリズムと高いカバレッジを組み合わせて使用することで、CNVを 100% の感度と99.9％の特異度で検出できます。

Hereditary epilepsy syndromes

gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described.

Hereditary epilepsy

Identifica mutações em genes conhecidos por estarem associados à epilepsia hereditária ou transtorno convulsivo, permitindo testes preditivos de familiares em risco. Oferece maior amplitude e profundidade de cobertura para cada base em cada exon em cada gene. Permite 100% de sensibilidade e 99,9% de especificidade para a detecção de CNVs por meio do uso de um algoritmo desenvolvido internamente para detecção de CNV combinado com uma alta profundidade de cobertura. Inclui relató...

Hereditary epilepsy

Identifie les mutations au sein de gènes connus pour être associés à l'épilepsie héréditaire ou aux troubles convulsifs, ce qui permet de réaliser des tests prédictifs sur les membres de la famille à risque. Offre une couverture plus étendue et plus approfondie pour chaque base de chaque exon de chaque gène. Permet une sensibilité de 100 % et une spécificité de 99,9 % pour la détection des CNV grâce à l'utilisation d'un algorithme développé en interne pour...

레버씨 시신경 위축증 (Leber hereditary optic neuropathy(LHON))

레버씨 시신경 위축증(Leber hereditary optic neuropathy, LHON)는 젊은 성인기에 특징적인 시신경의 손상으로 인해 통증을 동반하지 않으면서 양쪽 시력이 진행성으로 악화되는 사립체성 유전 질환을 의미합니다. 이...