✦ LIBER ✦

Novel SCN1A frameshift mutation with absence of truncated NaV1.1 protein in severe myoclonic epilepsy of infancy

✍ Scribed by Erin J. McArdle; Jennifer D. Kunic; Alfred L. George Jr.

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 92 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32448

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo SCN1A mutations are a major caus

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

✍ Lieve Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann Löfgren; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB

Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a family history of a similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later in life, patients display different types of afebrile s

Parental mosaicism can cause recurrent t

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

✍ Christel Depienne; Alexis Arzimanoglou; Oriane Trouillard; Estelle Fedirko; Stép 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 181 KB

De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far. A few mutations inherited from an asymptomatic or mildly affected parent have been reported,

Absence of NOTCH2 and Hey2 mutations in

Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

✍ Inaam El-Rassy; Jad Bou-Abdallah; Sara Al-Ghadban; Fadi Bitar; Georges Nemer 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 2 views

A novel mutation of the protein C gene w

A novel mutation of the protein C gene with a frameshift deletion of 3 base pair F (3380AGG) in exon 6 in type 1 deficiency associated with arterial and venous thrombosis

✍ Takahashi, Toru; Shinohara, Kenji; Nawata, Ryohei; Wakiyama, Machiko; Hamasaki, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 3 views

TABLE I. Colony-Forming Assay From CD34 + Bone Marrow Cells Serum a BFU-E/10 2 CD34 + cells Control 1 50.2 ± 4.6 Control 2 48.5 ± 14.1 Before chemotherapy 24.4 ± 6.2 b After chemotherapy 50.5 ± 6.5 Values are means ± SD of triplicate cultures. a Control 1; normal AB serum, Control 2; serum from a pa