Seizures, benign familial neonatal, 3(BFNC3; BFNS3)

MedGen UID:: 334063
•Concept ID:: C1842382
•: Disease or Syndrome

Synonyms:	BFNS3; CONVULSIONS, BENIGN FAMILIAL NEONATAL, 3

Monarch Initiative:	MONDO:0011990
OMIM®:	608217

Clinical features

From HPO

Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

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Abnormality of the nervous system
- Bilateral tonic-clonic seizure

Recent clinical studies

Diagnosis

A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.

Benetou C, Papailiou S, Maritsi D, Anagnostopoulou K, Kontos H, Vartzelis G
Turk J Pediatr 2019;61(2):279-281. doi: 10.24953/turkjped.2019.02.020. PMID: 31951342

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Prognosis

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, Taglialatela M
J Neurosci 2015 Mar 4;35(9):3782-93. doi: 10.1523/JNEUROSCI.4423-14.2015. PMID: 25740509 Free PMC Article

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Clinical prediction guides

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, Maljevic S
Ann Neurol 2014 Mar;75(3):382-94. Epub 2014 Mar 18 doi: 10.1002/ana.24080. PMID: 24318194

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Seizures, benign familial neonatal, 3(BFNC3; BFNS3)

Clinical features

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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Molecular resources

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