Convulsions benign familial neonatal dominant form

Also Known As:

Autosomal dominant form of benign neonatal seizures; Benign familial neonatal seizures; Convulsions, Benign Familial Neonatal, 2; Epilepsy, Benign Neonatal, 2; Seizures, Benign Familial Neonatal

Networked: 16 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Benign Neonatal Epilepsy: 100
        Convulsions benign familial neonatal dominant form: 16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Diseases Newborn Infant: 266
  - Benign Neonatal Epilepsy: 100
    - Convulsions benign familial neonatal dominant form: 16

Related Diseases

1.	Epilepsy (Aura)
2.	Epileptic Syndromes
3.	Cognitive Dysfunction
4.	Channelopathies
5.	Seizures (Absence Seizure)

Experts

1.	Bellini, Giulia: 3 articles (12/2016 - 06/2009)
2.	Taglialatela, Maurizio: 3 articles (12/2016 - 06/2009)
3.	Lerche, Holger: 3 articles (09/2016 - 10/2011)
4.	Maljevic, Snezana: 3 articles (09/2016 - 10/2011)
5.	Scheffer, Ingrid E: 3 articles (03/2014 - 09/2002)
6.	Miceli, Francesco: 2 articles (02/2015 - 06/2009)
7.	Soldovieri, Maria Virginia: 2 articles (02/2015 - 06/2009)
8.	Berkovic, Samuel F: 2 articles (02/2010 - 09/2002)
9.	Heron, Sarah E: 2 articles (02/2010 - 09/2002)
10.	Mulley, John C: 2 articles (02/2010 - 09/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Convulsions benign familial neonatal dominant form:

1.	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 03/01/2014 - "Mutations in KCNQ2 and KCNQ3, encoding the voltage-gated potassium channels KV 7.2 and KV 7.3, are known to cause benign familial neonatal seizures mainly by haploinsufficiency. " 12/01/2007 - "Benign familial neonatal seizures are most often caused by mutations in the voltage-gated potassium channel subunit gene KCNQ2. " 10/01/2006 - "Linkage analysis in this family confirmed a previous report of genetic heterogeneity in BFIS - since linkage was excluded at the above-mentioned known BFIS loci - and suggested a possible linkage to the KCNQ2 gene, which is believed to be a voltage gated potassium channel gene responsible for benign familial neonatal seizures (BFNS). " 09/01/2016 - "Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. " 01/01/2013 - "Mutations in voltage-gated potassium channel Kv7.2 are responsible for benign familial neonatal seizures type 1, a rare monogenic autosomal dominant inherited epilepsy syndrome. "
2.	PotassiumIBA 10/13/2009 - "Mutations of the genes encoding subunits of potassium voltage-gated channel, KCNQ2 and KCNQ3, have been identified in patients with benign familial neonatal seizures (BFNS). " 03/01/2009 - "Mutations of potassium voltage-gated channel, KQT-like subfamily, members 2 and 3 genes were identified to be responsible for benign familial neonatal seizures. " 06/01/2009 - "Benign Familial Neonatal Seizures (BFNS) is a rare, autosomal-dominant epilepsy of the newborn caused by mutations in K(v)7.2 (KCNQ2) or K(v)7.3 (KCNQ3) genes encoding for neuronal potassium (K(+)) channel subunits. " 12/01/2006 - "These channelopathies include genes encoding voltage-gated channels specific for sodium (SCN1A, SCN2A, SCN1B, SCN9A) and potassium (KCNQ2, KCNQ3) which account for a variety of epilepsy phenotypes ranging from mild, such as Benign familial neonatal seizures (BFNS) to severe, such as Dravet syndrome (severe myoclonic epilepsy of infancy, SMEI) and the rare and unusual syndrome paroxysmal extreme pain disorder (PEPD). "
3.	Potassium Channels (Potassium Channel)IBA 09/14/2002 - "Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. " 01/01/1999 - "Disease gene identification, such as the two potassium ion channels (KCNQ2 and KCNQ3) for the two forms of benign familial neonatal seizures (BFNC) and the alpha4 subunit of the nicotinic receptor for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), however, should yield significant advances in drug discoveries. "
4.	Amino Acids FDA Link 01/01/2013 - "We describe a novel mutation (c.1126_1127delA) in exon 9 of KCNQ2, the gene encoding for the Kv7.2 channel, in a large Emirati family with benign familial neonatal seizures type 1. The mutation leads to a frameshift at amino acid position 376, triggering loss of function and haploinsufficiency. " 11/08/2000 - "A deletion of 300 amino acids from the COOH terminal of the K+ channel reduces the electrical stability of the neuron in subjects with benign familial neonatal seizures. "
5.	SodiumIBA 12/01/2006 - "These channelopathies include genes encoding voltage-gated channels specific for sodium (SCN1A, SCN2A, SCN1B, SCN9A) and potassium (KCNQ2, KCNQ3) which account for a variety of epilepsy phenotypes ranging from mild, such as Benign familial neonatal seizures (BFNS) to severe, such as Dravet syndrome (severe myoclonic epilepsy of infancy, SMEI) and the rare and unusual syndrome paroxysmal extreme pain disorder (PEPD). "
6.	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 01/01/1999 - "Disease gene identification, such as the two potassium ion channels (KCNQ2 and KCNQ3) for the two forms of benign familial neonatal seizures (BFNC) and the alpha4 subunit of the nicotinic receptor for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), however, should yield significant advances in drug discoveries. "
7.	Ion Channels (Ion Channel)IBA 02/01/2010 - "To find a cause for this unusual combination of phenotypes, we tested the patient for mutations in seven ion channel genes associated with either LQTS or benign familial neonatal seizures (BFNS). "
8.	DNA (Deoxyribonucleic Acid)IBA 11/01/2009 - "A family in which members in several generations had signs and symptoms compatible with a diagnosis of benign familial neonatal seizures had DNA testing with single-stranded conformation polymorphism analysis for various mutations known to cause benign familial neonatal seizures. "