KEGG DISEASE: Benign familial infantile seizure

DISEASE: Benign familial infantile seizure

Entry

H02362                      Disease

Name

Benign familial infantile seizure

Description

Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. PRRT2 has been identified as the major gene found to be mutated in 80 to 90% of cases. Recently, mutations in the genes coding for the voltage-gated sodium channel subunits have been reported.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Headache disorders
   8A80  Migraine
    H02362  Benign familial infantile seizure
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H02362  Benign familial infantile seizure

Pathway

hsa04517 IGSF CAM signaling

Network

nt06546 IgSF CAM signaling

Gene

(BFIS2) PRRT2 [HSA:112476] [KO:K23897]
(BFIS3) SCN2A [HSA:6326] [KO:K04834]
(BFIS5) SCN8A [HSA:6334] [KO:K04840]

Other DBs

ICD-11:

8A80.Y

MeSH:

D020936

OMIM:

601764 605751 607745 617080

Reference

PMID:22243967

Authors

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM

Title

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Journal

Am J Hum Genet 90:152-60 (2012)
DOI:10.1016/j.ajhg.2011.12.003

Reference

PMID:15048894

Authors

Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE

Title

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

Journal

Ann Neurol 55:550-7 (2004)
DOI:10.1002/ana.20029

Reference

PMID:16417554

Authors

Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F

Title

A novel SCN2A mutation in family with benign familial infantile seizures.

Journal

Epilepsia 47:218-20 (2006)
DOI:10.1111/j.1528-1167.2006.00392.x

Reference

PMID:26677014

Authors

Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmuller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nurnberg P, Mang Y, Bakke Moller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG

Title

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Journal

Ann Neurol 79:428-36 (2016)
DOI:10.1002/ana.24580

LinkDB

» Japanese version

DISEASE: Familial myoclonus

Entry

H02789                      Disease

Name

Familial myoclonus

Description

Myoclonus (MYOCL) is characterized by sudden, brief involuntary movements. It can be severely debilitating. Myoclonus is thought to arise from spinal, subcortical, or cortical neuronal hyperexcitability. Several underlying genetic causes of familial myoclonus have been identified.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A06  Myoclonic disorders
    H02789  Familial myoclonus
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H02789  Familial myoclonus

Pathway

hsa04517 IGSF CAM signaling

Network

nt06546 IgSF CAM signaling

Gene

(MYOCL1) NOL3 [HSA:8996] [KO:K28177]
(MYOCL2) SCN8A [HSA:6334] [KO:K04840]

Other DBs

ICD-11:

8A06.0

OMIM:

614937 618364

Reference

PMID:22926851 (MYOCL1)

Authors

Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptacek LJ

Title

Familial cortical myoclonus with a mutation in NOL3.

Journal

Ann Neurol 72:175-83 (2012)
DOI:10.1002/ana.23666

Reference

PMID:29726066 (MYOCL2)

Authors

Wagnon JL, Mencacci NE, Barker BS, Wengert ER, Bhatia KP, Balint B, Carecchio M, Wood NW, Patel MK, Meisler MH

Title

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

Journal

Hum Mutat 39:965-969 (2018)
DOI:10.1002/humu.23547

LinkDB

» Japanese version

DISEASE: Cognitive impairment with or without cerebellar ataxia

Entry

H02980                      Disease

Name

Cognitive impairment with or without cerebellar ataxia

Description

Cognitive impairment with or without cerebellar ataxia (CIAT) is a rare genetic neurological disorder characterized by motor and cognitive deficits of variable expressivity. This disease is caused by mutations of the SCN8A gene, which encodes the voltage-gated sodium channel Nav1.6.